Clinical Genetics 1977: 12: 28-38
Dermatoglyphic patterns in trisomy 8 syndrome* A.
RODEWALDI,
H.
ZANKL",
H.
WlSCHERATHl A N D
B. BORKOWSKY-FEHR:~
1 Institute
2
of Anthropology and Human Genetics, University of Munich, Institute of Human Genetics, University of Saarland, and 3 City Hospital, Weiden i.d.OPf., West-Germany
Up to the present, 38 cases of trisomy 8 have been found. As most of the patients showed mosaicism, the clinical picture is variable and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. We therefore examined the dermatoglyphics of our own case and compared the results with the findings in the other cases reported in the literature, in order to establish a typical dermatoglyphic pattern in trisomy 8 which might be useful in diagnosis. All patients exhibited several unusual dermatoglyphics, including: a low TFRC (ii = 96.06), high palmar (92.9 %) and plantar (100 %) pattern intensity, a distally placed axial triradius (62.5 %), loop with accessory triradius in an interdigital area (91.7 %), thenar (68.2 %) and hypothenar (50.0 %) patterns, simian crease (47.1 %), bilateral arches on the great toes (88.9 %) and hallucal-whorl (72.2 %). A distinctive feature was the presence of zygodactylous triradii z, z' and z" (100 %) on the soles of the feet, and deep skin furrows on the palms and soles (68.2 %). This combination of dermatoglyphic features appears to be characteristic for the trisomy 8 syndrome. Received 14 December 1976, revised 21 February, accepted for p~rblication 21 February 1977
Since identification of C group chromosomes has been made possible by fluorescence microscopy (Casperson et al. 1970) and the Giemsa banding technique (Arrigi & Hsu 1971, Schnedl 1971, Seabright 1971, Sperling & Wiesner 1972), several cases of trisomy 8 have been published. Chromosome 8 is the largest autosome so far found to be trisomic among live-born infants and compatible with life (Atkins et al. 1974, Sanchez & Yunis 1974, Lewandowski 1975, Yunis & Sanchez 1975). In contrast to the other autosomal anomalies, birth weight and somatic development were
*
normal in most cases. Because of the normal birth weight, the only moderate psychomotor retardation, the absence of striking facial dysmorphia and the absence of major malformations, diagnosis has until now not been m a d e before the age of 3-5 years However, this chromosomal abnormality does not seem to be a great handicap either in utero or during later somatic and psychomotor development. Common features of trisomy 8 syndrome include: mild to moderate mental retardation (38 out of 39 patients), strabismus (16/39), osseous and soft tissue abnormali-
The results of this paper were presented in part at the Vth International Congress of Human Genetics at Mexico, D.F., 10-15 October 1976.
29
DERMATOGLYPHIC PATTERNS IN TRISOMY 8 SYNDROME
ties (25/39), skull deformity (17/39), low-set and/or malformed ears (25/39), broad bulbous, upturned nose (17/39) and palmar and/or plantar deep skin furrows (17139). In addition to these signs and symptoms, the presence* of: short fifth fingers with clinodactyly (17/39) and camptodactyly (8/39), abnormalities of hand and/or feet (16/39), restricted articular function (20/39), long slender trunk and a slender pelvis (12/39) are frequent features of the syndrome. Other findings include*: thick and everted lower lip (11/39), absent patella (8/39), agenesis of the corpus callosum (4/39), high-arched or cleft palate (10/39), cryptorchism (5/27), urinary tract anomalies (12/39) and cardiovascular malformations (11/39). A review of the literature reveals great variations in the clinical manifestations of trisomy 8 cases, with a wide range of clinical findings. The considerable phenotypic and clinical variation of this particular chromosomal aberration is presumably caused by the mosaicism which has been observed in the majority of trisomy 8 cases, i.e., in 30 out of 39 patients (Table 1). In order to establish a typical dermotoglyphic pattern conbination in trisomy 8 which might be useful in diagnosis, we examined the dermatoglyphics of our own case and compared the results with the findings in other cases reported in the literature (Table 2). Case Report
The propositus, born April 22, 1974, is the first child of healthy parents. The father was 22 and the mother 18 years old at the patient’s birth. There was no consanguinity either in the parents or in the maternal or paternal grandparents, and there was n o
*
insufficient data in most of the cases in the literature.
Table 1 Summary of the patients with trisomy 8 ~
Trisorny 8 patients
8
2
Trisomy 8 mosaicism
21 1
7
Our case With Down’s syndrome Free trisorny Total
Total
1
29 1
5
4
9
27
12
39
history of irradiation or unusual medication during pregnancy. The proband was born at term following an uncomplicated pregnancy. Birth weight was 5,100 g, length 60 cm and head circumference 41.5 cm. A few minutes after birth he became tachypnoic, and because of asphyxia and apnoic episodes he was hospitalized (in the Children’s Hospital, Weiden i.d. OPf., West Germany). A cephalhematome, a left clavicular fracture and anaemia were observed. The child was examined repeatedly because of developmental retardation, and at the age of 12 months he was again admitted to the hospital. The clinical examination revealed (Fig. l a, lb, lc): large, dolicocephalic head; large, broad nose; antimongoloid slant of the palpebral fissures; mild epicanthus; strabismus convergens; thick, everted lower lip; low-set ears with a dysplastic configuration; a folded cartilagedeficient pinna and distorted concha; and high-arched palate. The hands showed no clinodactyly or camptodactyly. Mobility of joints, especially of finger joints, was limited. The toe joints were normal, and both patellae were present. Deep skin furrows on the palms and soles were also found. The genitalia were normal and both testes were descended. X-ray analysis showed a normal pelvis, horizontal ribs and coxa valga bilaterally. The patient was considered to be mildly mentally retarded.
30
RODEWALD, ZANKI, WISCHERATH AND BORKOWSKY-FEHR
Table 2
Dermatoglyphic findings in trisomy 8 patients Almost complete data
6 Trisomy 8 mosaicism
9
Insufficient data
P
6
6
P
7
our case 1 Free trisomy 8
Controls'
23
2
Total
Tottal
1
1
4
12
6
8
1
27
282
270
-
-
552
* 552 healthy persons from South Germany (Rodewald 1974).
At the age of 14 months, the height was 83.0 cm, weight 11.1 kg, head circumference 50 cm, distance between nipples 12 cm and trunk length 29 cm. A moderate statomotoric retardation was also noted. Laboratory tests, including red and white cells, urinary sediment, electrolytes, hematocrit, transaminases, creatinine, total protein, liquor-cerebro-spinalis, immuniglobulins and urinary aminoacids were within normal limits.
Ocular examination, EEG and ECG revealed no abnormalities. Distinct dermatoglyphic pattern combinations were found on the fingers, palms and soles. At a later evaluation, at the age of 20 months, the statomotoric development corresponded to 15 months, and mental development to 12 months. Cytogenetic Findings (Table 3 ) The chromosome preparations were per-
Fig. 1. The patient at the age of 12 months (a lateral view, b frontal view, and c total ventral view).
31
DERMATOGLYPHIC PATTERNS I N TRISOMY 8 SYNDROME Table 3
Cytogenetic findings of the propositus and his parents No. of chromosomes
45
46'
47"
Total
Age No. of analyzed metaphase plates Proband
a) lymphocytes
10 wk
5
30
17
52
16 mon
3
42
5
50
b) fibroblasts
16 mon
2
4
22
28
Father
a) lymphocytes
23 yr
6
15
Mother
a) lymphocytes
19 yr
5
10
-
23
21
* Normal karyotypes, 46,XY, and 46,XX. respectively. *' Karyotype 47,XY,+8.
formed from lymphocyte cultures (slightly modified method of Arakaki & Sparkes 1963) and skin fibroblasts (method described by Schwarzacher & Wolf 1970, and Schwarzacher et al. 1974). Repeated chromosome studies on separate blood (at the ages of 10 weeks, and 16 months) and skin cultures (at the age of 16 months) showed a chromosome constitution of 46,XY/47,XY, +C using standard methods. To identify the extra C-group chromosome, G- and Qbanding techniques were employed. All methods clearly showed the supernumerary chromosome to be a No. 8. The first cytogenetic analysis revealed mosaicism in a proportion of 2:l of normal/ trisomic cells in the lymphocytes (at the age of 10 weeks). The second cytogenetic analysis showed a reduction of trisomic cells in blood (proportion normalkrisomic lymphocytes was 8:1), but a high proportion of trisomic cells in skin fibroblasts (80%). No chromosomal abnormalities were found in the phenotypically normal mother and father of the propositus (Table 3). Dermatoglyphic Findings (Table 4 ) The results of the dermatoglyphic analysis of the proband and his parents are summarized in Table 4. The following atypical dermatoglyphic stigmata were found in
the patient: low total finger ridge count (TFRC); transverse direction of the papillary lines on the palms; bilateral simian and hypothenar creases; distally placed axial triradii (right t" and left t' position); high atd angle; additional triradii c' on the right and d' on the left hand; complicated pattern on the thenar/Jl (radial loop/cross bandl carpal loop); and distal loops in the 3rd and 4th interdigital areas. The patient showed a high palmar pattern intensity and dysplasia of the papillary lines, especially on the hypothenar. The patient also had a high pattern intensity on the soles, expressed by the presence of three large whorls on the right and of four whorls on the left plantar areas. A hallucal crease combined with two vertical creases, was present on both feet. There were four arches and six fibular loops on the toes. Another interesting feature was the presence of zygodactylous patterns (cross bands) with zygodactylous triradii z, z' and z" on the soles. No unusual findings were noted in the parents except for the presence of symmetrical whorls in the 3rd interdigital areas on the soles of the mother's feet. Material from the Literature In most cases (29), mosaicism was demon-
32
RODEWALD, ZANKI, WISCHERATH AND BORKOWSKY-FEHR
Table 4 Dermatoglyphic findings% Digital patterns Left
atd- angle
(W
Right
5
4
3
2
1
1
2
3
4
(W
5 T F R C L R L R
W*
U
U
Ws
Wd
U
Ws
U
Ws
U
118
Father
U
U
A
U
U
A
A
W9
U
105
41 43 10 12
Mother
U
W"
U
Ws
U
U U
U
U
Ws
U
179
45 40 35 33
Proband
57 83 18 45
Palmar patterns Dysplasia
a-bRC b-cRC c-dRC Proband
Father
Mother
R:11.9-7. 7.
5.-t"-AU/Ae
.Lr/O/Le
.V.Ld.Ld
44
34
29
L: 11-7.9. 7.
5. -t'-A"/AC
.LrIOILp
.V.Ld.L"
46
28
28
+ +
R: 9.7.5".
4. -t -A"
.O
.O.O.Ld
42
29
39
-
28
36
-
+ +
+ +
-
-
-
L: 9.7.5.
4. -t -A"
.O
.o.o.Ld
40
R: 11.9.7.
5'.-t'-A"/Ac
.O
.O.Ld.O
44
18
40
-
L: 11.9.7.
5'.-t'-A"/AC
.O
.o.Ld.0
51
18
37
-
3
4
5
Hallucalcrease
2 Vertical creases
F
A
Toe patterns Left 5
4
Proband
A
Father
F
Mother
A
Right 1
2
-
-
3
2
1
F
F
F
F
A
A
F
+I+
+it
F
w"
F
F
F
F
W"
F
F
-1-
-I-
Wd
F
F
F
F
F
W"
F
A
-1-
-1-
Dysplasia
P
P'
P"
e
f
2
+ + -
+ +
+
+ +
+ + + +
+ +
+ + -
Plantar patterns
Proband
R: Lt.Lp/W .Wy.Ws .V/Lt L: W'.W*
.WS.WS
.V/L'
Father:
R: Ws.V
.L".O
.V/Lt
L:L'.L'I
.o.o
.V/L'
Mother
R: L".L"
.Ws.O
.V/Lt
L: L".L"
.W'.O
.L'
-
-
+ + -
-
+ + + +
+
+ -
-
2'
+
2 ' 1
+
+
+
-
+
-
+
-
Nomenclature from Penrose (1968) I,Hypothenar crease.
a
strated. One case (Wilson et al. 1974) had a double autosomal trisomy: trisomy 21 and trisomy 8. Only in three cases (Casperson et al. 1972, Lejeune & Rethort 1973, Jacobsen et al. 1974) did both blood and skin chromosome analyses reveal a pure trisomic karyotype. Five other cases had pure trisomies in lymphocytes, but analysis o€ skin
fibroblasts was not done (Caspersson et al. 1972, Kakati et al. 1973, Dallapiccola & Gallenga 1974, de Grouchy et al. 1974, Sperber 1975). There was a preponderance of males (27 6/12 0 ; P < 0.01) with trisomy 8 syndrome (Table 1), but the reasons for this sex difference are not known at present.
33
DERMATOGLYPHIC PATTERNS IN TRISOMY 8 SYNDROME
Table 5 Fingertip patterns in trisomy 8 patients and controls ~
U
A
~
%
Trisomy 8 N = 190
57
30.0
82
43.2
7
3.7
Controls N = 5520
343
6.2
3,234
58.6
250
4.5
X' = 162.26; df = 3; P
N
W
N
N
~~
R Vn
oh
%
Unknown N Vo
42
22.1
2
1.1
1,693
30.7
-
-
N
< 0.001.
Almost complete dermatoglyphic data have been reported by Gustavson et al. (1967), Riccardi et al. (1970), Laurent et al. (1971), Bijlsma et al. (1972), Malpuech et al. (1972), Penrose (1972), Tuncbilek et al. (1972) and (1974), Jacobsen et al. (1974), Rutzler et al. (1974), Schaumann et al. (1974), Schinzel et al. (1974), Aller et al. (1975), Finernan et al. (1975), Giraud et al. (1975). Less complete data have been reported in several other cases (Table 2) of trisorny 8 (de Grouchy et al. 1971, Caspersson et al. 1972, Crandall et al. 1974, Dallapiccola & Gallenga 1974, Walravens et al. 1974, Wilson et al. 1974, Moore & Scott 1975, Singh et al. 1975, Sperber 1975). Results
In every patient with trisomy 8, an unusual combination of dermatoglyphic findings was noted. One unusual feature was the simultaneous presence of both arches and whorls on the fingertips of the same individual, a
phenomenon also seen in trisomy No. 13 (Penrose 1966). This is not a constant feature. It was observed in only four of the 19 reported cases. There was, furthermore, a markedly increased frequency of arches on the fingertips (Table 5). The total finger ridge count (TFRC) was found to be low in almost all cases in which this feature was recorded, varying between 32 and 189 (Table 6). A distally placed axial triradius t' and/or t" was found in 62.5 % of trisomy 8 patients and in 38.7 % of controls (Table 7). The maximal atd angle was increased (Table 8). The difference between controls and trisomy 8 patients was statistically significant. The incidence of hypothenar and thenar patterns was clearly increased in trisomy 8 patients (Table 9). There was a markedly increased frequency of true patterns (loops and whorls) in the 2nd, 3rd and 4th interdigital areas (Table 10). In addition, all the patients with
Table 6 TFRC mean values of trisomy 8 patients and of controls ~~~
Trisomy 8
(N = 11); j( = 96.09
Table 7 Distally placed axial triradii t' and/or t" in trisomy 8 patients and controls
k 49.99 Hands
Controls
(5 N = 282); (9 N = 270);
2 = 144.6 k 43.43 2 = 130.4 k 49.32
Trisomy 8/5 controls t = 3.17; f = 10.8; P = 0.005. Trisomy 8/P controls t = 2.23; f = 11.0; P = 0.025.
Trisomy 8 Controls
1' i t"
t
25 (62.5 o h ) 3011 (38.69 %)
15 (37.5 %) 796 (61.31 %)
X' = 22.41; df = 1; P
< 0.001.
34
RODEWALD, ZANKI, WISCHERATH AND BORKOWSKY-FEHR Table 8
Table 10
Mean values of the maximal atd angle
Percentage frequency of true patterns in the 2nd, 3rd and 4th interdigital areas
* 19.65
Trisomy 8 (N = 20)
X = 63.8
Controls (N = 1104)
X = 45.1 k
t = 4.25; f = 19.2; P
8.74
< 0.005.
Patterns Trisomy 8
(N = 24 palms,
trisomy 8 had a high palmar pattern intensity. The concomitant presence of true patterns (La, D, W) on all five palmar areas in the same individual was observed in three out of 22 palms, on four palmar areas in three out of 22 hands and on three palmar areas in nine out of 22 hands (Table 11). In most cases, a unilateral transverse four-finger crease (typical simian crease and/or a distal palmar crease ending near the first interdigital space) were found (Table 12). There was a markedly increased frequency of arches on the toes (80 %, N = 30). Bilateral arches on the great toes were found in eight out of nine patients (88.9 %), and in only 3.2 % of phenotypically normal individuals (Table 13). Arches only (Le., 10 arches on the toes in the same individual) were found in two out of three reported cases of trisomy 8 (Rutzler et al. 1974, Schinzel et al. 1974, and our case). An unusual finding in the trisomy 8 patients was the combination of bilateral
+w
W i n 1,
23.81 %
79.2 %
4.2 %
92.3 %
3.1 %
62.9 %
0.5
38.4 %
Ld
i n 13
Controls
(N = 1104
010
palms) XZ
= 15.16; df = 3; 0.01
> P > 0.001.
whorls in the hallucal areas of the sole with more than one additional whorl in the plantar interdigital areas. This was found in five out of nine patients with trisomy 8. The combination of a whorl in the hallucal areas with more than one additional whorl in the other plantar interdigital areas was seen in 13 out of 18 soles (Table 14). There was a markedly increased frequency of whorls in the plantar interdigital areas in trisomy 8 patients, as compared to the controls. In the control group, whorls were rare in the 2nd interdigital area, and extremely rare in the 4th area (only 0.6 %). However, both areas show a much higher incidence (38.9 % and 55.6 %, respectively) in the trisomy 8 patients (Table 15). A distinctive feature was the presence of zygodactylous triradii z, z’ and Z” on the soles. The concomitant presence of z, z’
Table 9
Tab:e 11
Percentage frequency of hypothenar and thenar patterns
Simultaneous presence of patterns on palmar areas in the same individual
Patterns
Hypothenar
Thenar
Trisomy 6
50.0
010
66.2 %’
Controls
36.6 %
8.5 %”
’ 4 whorls (16.16 0 1 0 ) ; N = 22. N = 1104.
Patterns
0
1
2
3
4
5
Trisomy 8 N = 22
0.0
4.5
27.3
40.9
13.6
13.6
Controls N = 800
1.8
50.0
36.3
8.8
2.5
0.7
* * 2 whorls ( 0.2 %); X2
L‘
i n 1,
Ld i n I 2
= 19.38; df = 1; P
< 0.001,
X2
= 43.53; df = 2; P
< 0.001
DERMATOGLYPHIC PATTERNS I N TRISOMY 8 SYNDROME
35
Table 12
Table 14
Presence of a simian crease in the trisomy 8 patients
T h e combinations of the whorls on the soles Hallucal whorl
TGz;i: Controls (N = 550) Xz
On One palm
On both palms
6 (35.3 %)
2 (11.8 %)
38 ( 6.9 %)
= 21.68; df = 2; P
23 ( 4.2 %)
Not present
9
489
(52.9 %)
(88.9 %)
Trisomy 6 N = 13 Controls N = 940
+O whorl 0.0
30.8
76.60
21.28
x2 = 193.44; df = 1; P
< 0.001,
and z” triradii in the same individual was observed in 33.3 % of soles from trisomy 8 patients but only in 4.8 % of soles from normal persons (Rodewald & Ziegelmayer 1977). Table 16 shows that all zygodactylous triradii exhibited a higher incidence in trisomy 8 patients than in control persons. Deep palmar and plantar skin furrows (“plis capitonnks”) were found in 68.2 % of trisomy 8 patients, and these represent a distinctive feature of trisomy 8 syndrome (Lejeune & RethorC 1973). They gradually disappear with time and consequently have not been observed in older patients, with the exception of the patient of Crandall et al. (1974) (20 yr) and the patient of Sperber (1975) (33 yr). Discussion
+1 whorl
+2
+3
whorls
whorls
53.8
15.4
2.12
0.0
< 0.001.
a characteristic pattern for this chromosomal syndrome. It is likely that there is a causal relationship between the chromosome abnormality and the dermatoglyphic findings. In 1974 and 1976, Schaumann et al. and Schaumann & Alter gave the first summaries of the dermatoglyphic data from nine patients with trisomy 8. They noted similarities in several unusual dermatoglyphic patterns among some of the patients, including: an increased frequency of arch patterns on the fingertips; low TFRC; high palmar and plantar pattern intensity; bilateral arches on the great toes; a simian crease; and deep palmar and plantar skin furrows. Figure 2a and b shows a “phantom picture” of a dermatoglyphic pattern combination of the hand and sole, characteristic for trisomy 8 syndrome. Many dermatoglyphic features are common to all of them, including: an excess of arches on the fingertips;
The remarkable similarities in the unusual dermatoglyphic features observed in the patients with trisomy 8 suggest that there is
Table 15
Frequency of whorls in the plantar interdigital areas Table 13
Bilateral arches on the great toes Trisomy 8 patients (N = 9)
8 (88.9 ” 0 )
Controls (N = 250)
8 ( 3.2 %)
Xz
= 109.23: df = 1; P
< 0.001.
Hallucal
12
11
11
72.2
38 9
83.3
55.8
Controls N = 1104
30.3
4.5
12.4
0.6
xz = 71.25; df = 3; P
< 0.001.
Trisomy 8 N = 18
36
RODEWALD, ZANKI, WISCHERATH AND BORKOWSKY-FEHR
Table 16
2
Percentage frequency of zygodactylous triradii on the soles
W
Trisomy 8 N = 12 Controls N = 1200 X*
= 40.15; df = 2; P
z
z‘
z”
83.3
75.0
75.0
40.7
15.2
2.8
1 A
A
< 0.001.
low TFRC; distally placed axial triradii t’ and t“; increased atd angle; additional interdigital triradii a’ and d’; unilateral simian crease; high frequency of arches on the toes; bilateral arches on the great toes; high palrnar and plantar pattern intensity, and deep skin furrows (“plis capitonnks”) on both palms and soles. All these differences between trisorny 8 patients and controls were statistically significant (Table 5 - Table 16). The proportion of diploid and trisornic cells in the mosaic trisomy 8 patients did not correlate with the extent of clinical and/ or derrnatoglyphic stigmata, nor with the degree of the handicap. No unusual clinical and dermatoglyphic findings were noted in the parents (five Fig. 2s. “Phantom picture’’ of the palm syndrome+. 1 = excess of arches on the fingertips 2 = presence of both arches end whorls, finger ridge count (TrRC) 3 = distally placed axial triradii 1’ and t” 4 = increased atd angle 5 = additional interdigital triradii a’ld’ 6 = unilateral simian crease 7 = deep palmar skin furrows 8 = high pattern intensity on palms Fig. 2b. “Phantom picture” of the sole syndrome+. 1 = high frequency of arches on the toes 2 = bilateral arches on the great toes 3 = zygodactylous triradii z , z’ and z” 4 = whorls in the hallucal and interdigital 4 = high pattern intensity on the soles 5 = deep plantar skin furrows + Nomenclature from Penrose (1968)
F
Trlsomy 8
low total
Trlsomy 8
areas
\
\ ; r ‘ 5
1 A
2 A
DERMATOGLYPHIC PATTERNS IN TRtSOMY 8 SYNDROME
fathers and 5 mothers) and unaffected sibs of patients with trisomy 8. As most of the patients showed mosaicism, the clinical picture is variable, and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. On the other hand, in five cases (Stalder et al. 1964, Neu et al. 1969, Schinzel et al. 1974, Moore & Scott 1975 and our case) mosaicism in blood lymphocytes disappeared with time. We would like to point out that in cases where the clinical and especially the dermatoglyphic features are suggestive of the trisomy 8 syndrome, and where a normal karyotype has been established in lymphocytes, a chromosomal examination in other tissues should be carried out to detect mosaicism. It is therefore desirable that pediatricians become aware of the dermatoglyphic picture of trisomy 8. These dermatoglyphic findings lend further support to the delineation of the trisomy 8 syndrome as a nosologic entity.
References
AIler, V., J. A. Abrisqueta, A. Perez, M. A. Martin, C. Goday & J. del Mazo (1975). A case of trisomy 8 mosaicism 47,XX+8/46, XX. Clin. Genet. 7, 232-237. Arakaki, D. T. & R. S. Sparkes (1963). Microtechnique for culturing leukocytes from whole blood. Cytogenetics 2, 57-60. Arrighi, F. E. & T. C. Hsu (1971). Localisation of heterochromatin in human chromosomes. Cytogenetics 10, 81-86. Atkins, L., L. B. Holmes & V. M. Riccardi (1974). Trisomy 8. J . Pediut. 84, 302-304. Bijlsma, J. B., J. Wijffels & W. Tegelears (1972). C-8 trisomy mosaicism syndrome. Helv. paediat. Acta 27, 281-298. Caspersson, T., L. Zech & C. Johansson (1970). Differential banding of alkyliting fluorochromes in human chromosomes. Exp. Cell Rex 60, 315-319. Caspersson, T., J . Lindsten, L. Zech, K. E. Buckton & W. H. Price (1972). Four patients with trisomy 8 identified by the fluorescence-
37
and Giemsa-banding techniques. J . rned. Genet. 9, 1-7. Crandall, B. F., H. N. Bass, S. M. Marcy, M. Glovsky & C. H. Fish (1974). The trisomy 8 syndrome. J . med. Genet. 11, 393-398. Dallapiccola, B. & P. E. Gallenga (1974). A case of trisomy 8. Acta. Genet. rned. (Roma) 23, 253-258. Fineman, R. M., C. A. Ablow, R. 0. Howard, J. Albright & R. Breg (1975). Trisomy 8 mosaicism syndrome. Pediatrics 56, 5. Giraud, F., J.-F. Mattei, M. Blanc-Pardigon, M.-G. Mattei & R. Bernard (1975). Trisomie 8 en mosaique. Arch. franc. Pkdiat. 32, 177183. Grouchy, J. de, C. Turleau & C. Leonard (1971). Etude en fluorescence d'une trisomie C mosaique probablement 8: 46,XY/47,XY, ? 8 + . Ann. Ge'nkt. 14, 69. Grouchy, J . de, F. Josso, S. Beguin, C . Turleau, P. Jalbert & C. Laurent (1974). Dtficit en facteur VII de la coagulation chez trois sujets trisomiques 8. Ann. G g d t . 17, 105108. Gustavson, K.-H., B. Hagberg & B. Santesson (1967). Mosaic trisomy of an autosome in the 6-12 group in a patient with multiple congenital anomalies. Acta paediat. scand. 56, 681-686. Jacobsen, P., M. Mikkelsen & F. Rosleff (1974). The trisomy 8 syndrome: Report of two further cases. Ann. Gkne't. 17, 87-94. Kakati, S., M. Nihill & A. K. Sinha (1973). An attempt to establish trisomy 8 syndrome. Humungenetik 19, 293-300. Laurent, C., J. M. Robert, J. Grambert & B. Dutrillaux (1971). Observations cliniques et cytogtnitiques de deux adultes trisomiques C en mosaique. Individualisation du chromosome surnurntraire par la technique moderne de denaturation: 47,XY,?8 f . Lyorz me'd. 226, 827-833. Lejeune, J. & M.-0. Rethore (1973). Trisomies of chromosome 8. Nobel Symposia 23: Medicine and Natural Sciences: Chromosome Identification, ed. Caspersoon, T. & L. Zech. New York Academic Press, pp. 214-218. Lewandowski, R. C. (1975). New chromosomal syndromes. Amer. J . Dis. Child. 129, 515529. Malpuech, G., B. Dutrillaux, Y . Fonck, J. Gaulme & B. Bouche (1972). Trisomie 8 en mosaique. Arch. franc. PPdiat. 29, 853-859. Moore, C. M. & C. I. Scott (1975). Tissue specific trisomy 8. Amer. J . hum. Genet. 27, 67 A.
38
RODEWALD, ZANKI, WISCHERATH AND BORKOWSKY-FEHR
Neu, R.-L., G. J. Bargman & L. J. Gardner (1969). Disappearence of a 47,XX/C+ leucocyte cell line in an infant who had previously exhibited 46,XX/47,XX,C+ mosaicism. Pediatrics 43, 623-626. Penrose, L. S. (1966). Dermatoglyphic patterns in large acrocentric trisomy. 1. ment. Defic. Res. 10, 1-13. Penrose, L. S. (1968). Memorandum on dermatoglyphic nomenclature. Birth Defects: Original Article Series I V , No. 3, 1-13. Penrose, L. S. (1 972). Dermatoglyphic patterns in a case of trisomy 8. Lancet i, 957. Riccardi, V. M., L. Atkins & L. B. Holmes (1970). Absent patellae, mild mental retardation, skeletal and genito-urinary anomalies and C group autosomal mosaicism. J . Pediat. 77, 664-672. Riccardi, V. M., J. Humbert & D. Peakman (1975). Familial cancer, reciprocal translocation [t (7p;2Op)] and trisomy 8. Amer. J . hum. Genet. 27, 76A. Rodewald, A. (1974). Das Hautleistensystem bei Down-Syndrom mit einem Beitrag zur Differentialdiagnose. Dissertation, Munchen. Rodewald, A. & G. Ziegelmayer (1977). Das Zygodaktylie-Muster der Planta bei Gesunden und Patienten rnit Down-Syndrom. Mitt. Anthrop. Ges. Wien 107. In press. Riitzler, L., J. Briner, F. Saur & W. Schmid (1974). Mosaik-Trisomie-8. Helv. paediat. Acta 29, 541-553. Sanchez, 0. & J. Yunis (1974). Partial trisomy 8 (8q24) and the trisomy-8 syndrome. Hum. Genet. 23, 297-303. Schaumann, B., J. Cervenka & J. Gorlin (1974). Dermatoglyphics in trisomy 8 mosaicism. Hum. Genet. 24, 201-205. Schaumann, B. & M. Alter (1976). Dermatoglyphics in Medical Disorders. New York, Heidelberg, Berlin, Springer Verlag, pp. 169172. Schinzel, A., Z. Birb, W. Schmid & K. Hayashi (1974). Trisomy 8 mosaicism syndrome. Helv. paediat. Acta 29, 531-540. Schnedl, W.(1971). Banding pattern of human chromosomes. Nature new Biol. (Lond.) 233, 93-94.
Schwarzacher, H. G. & U. Wolf (1970). Methoden in der Medizinischen Zytogenetik. Berlin, Springer Verlag. Schwarzacher, H. G., U. Wolf & E. Passarge (1974). Methods in Human Cytogenetics. Berlin, Springer Verlag. Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet ii, 971-972. Singh, D. N., F. Rogers, J. Upshur & G. R. Henninger (1975). Trisomy-8 mosaicism. Amer. J. hum. Genet. 27, 81A. Sperber, A. (1975). Schizophrenia and organic brain syndrome with trisomy 8 (group-C trisomy 8 [47,XX,8 +)I. Biol. Psychiat. 10, 27-45. Sperling, K. & R. Wiesner (1972). A rapid banding technique for routine use in human and comparative cytogenetics. Hum. Genet. 15, 349-353. Stalder, G., E. M. Biihler, H. Brehme, U. Buhler & J. R. Weber (1964). Mosaik Normal Trisomie C bei einem schwachsinnigen Kind aus einer GI-Dk-Translokationsfamilie. Arch. Klaus-Stiff. Vererb.-Forsch., SuppI. 39, 92-105. Tuncbilek, E., C. Halicioglu & B. Say (1974). Trisomy-8 syndrome. Hum. Genet. 23, 23-29. Tuncbilek, E., M. Atasu & B. Say (1972). Dermatoglyphics in trisomy 8. Lancet ii, 821. Walravens, P. A., A. Greensher, J. W. Sparks & R. L. Wesenberg (1974). Trisomy 8 mosaicism. Amer. .I. Dis. Child. 128, 564-567. Wilson, M. G., A. Fujimoto & 0. S . Alfi (1974). Double autosomal trisomy and mosaicism for chromosomes Nu. 8 and No. 21. J . med. Genet. 11, 96-101. Yunis, J. J. & 0. Sanchez (1975). The G banded prophase chromosomes of man. H u m . Genet. 27, 167-172. Address: Alexander Rodewald, Ph.D. Institut fur Anthropologie und Humangenetik Universitat Miinchen Richard- Wagnerstr. 1011 8000 Miinchen 2 West Germany
Dermatoglyphic patterns in trisomy 8 syndrome* A.
RODEWALDI,
H.
ZANKL",
H.
WlSCHERATHl A N D
B. BORKOWSKY-FEHR:~
1 Institute
2
of Anthropology and Human Genetics, University of Munich, Institute of Human Genetics, University of Saarland, and 3 City Hospital, Weiden i.d.OPf., West-Germany
Up to the present, 38 cases of trisomy 8 have been found. As most of the patients showed mosaicism, the clinical picture is variable and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. We therefore examined the dermatoglyphics of our own case and compared the results with the findings in the other cases reported in the literature, in order to establish a typical dermatoglyphic pattern in trisomy 8 which might be useful in diagnosis. All patients exhibited several unusual dermatoglyphics, including: a low TFRC (ii = 96.06), high palmar (92.9 %) and plantar (100 %) pattern intensity, a distally placed axial triradius (62.5 %), loop with accessory triradius in an interdigital area (91.7 %), thenar (68.2 %) and hypothenar (50.0 %) patterns, simian crease (47.1 %), bilateral arches on the great toes (88.9 %) and hallucal-whorl (72.2 %). A distinctive feature was the presence of zygodactylous triradii z, z' and z" (100 %) on the soles of the feet, and deep skin furrows on the palms and soles (68.2 %). This combination of dermatoglyphic features appears to be characteristic for the trisomy 8 syndrome. Received 14 December 1976, revised 21 February, accepted for p~rblication 21 February 1977
Since identification of C group chromosomes has been made possible by fluorescence microscopy (Casperson et al. 1970) and the Giemsa banding technique (Arrigi & Hsu 1971, Schnedl 1971, Seabright 1971, Sperling & Wiesner 1972), several cases of trisomy 8 have been published. Chromosome 8 is the largest autosome so far found to be trisomic among live-born infants and compatible with life (Atkins et al. 1974, Sanchez & Yunis 1974, Lewandowski 1975, Yunis & Sanchez 1975). In contrast to the other autosomal anomalies, birth weight and somatic development were
*
normal in most cases. Because of the normal birth weight, the only moderate psychomotor retardation, the absence of striking facial dysmorphia and the absence of major malformations, diagnosis has until now not been m a d e before the age of 3-5 years However, this chromosomal abnormality does not seem to be a great handicap either in utero or during later somatic and psychomotor development. Common features of trisomy 8 syndrome include: mild to moderate mental retardation (38 out of 39 patients), strabismus (16/39), osseous and soft tissue abnormali-
The results of this paper were presented in part at the Vth International Congress of Human Genetics at Mexico, D.F., 10-15 October 1976.
29
DERMATOGLYPHIC PATTERNS IN TRISOMY 8 SYNDROME
ties (25/39), skull deformity (17/39), low-set and/or malformed ears (25/39), broad bulbous, upturned nose (17/39) and palmar and/or plantar deep skin furrows (17139). In addition to these signs and symptoms, the presence* of: short fifth fingers with clinodactyly (17/39) and camptodactyly (8/39), abnormalities of hand and/or feet (16/39), restricted articular function (20/39), long slender trunk and a slender pelvis (12/39) are frequent features of the syndrome. Other findings include*: thick and everted lower lip (11/39), absent patella (8/39), agenesis of the corpus callosum (4/39), high-arched or cleft palate (10/39), cryptorchism (5/27), urinary tract anomalies (12/39) and cardiovascular malformations (11/39). A review of the literature reveals great variations in the clinical manifestations of trisomy 8 cases, with a wide range of clinical findings. The considerable phenotypic and clinical variation of this particular chromosomal aberration is presumably caused by the mosaicism which has been observed in the majority of trisomy 8 cases, i.e., in 30 out of 39 patients (Table 1). In order to establish a typical dermotoglyphic pattern conbination in trisomy 8 which might be useful in diagnosis, we examined the dermatoglyphics of our own case and compared the results with the findings in other cases reported in the literature (Table 2). Case Report
The propositus, born April 22, 1974, is the first child of healthy parents. The father was 22 and the mother 18 years old at the patient’s birth. There was no consanguinity either in the parents or in the maternal or paternal grandparents, and there was n o
*
insufficient data in most of the cases in the literature.
Table 1 Summary of the patients with trisomy 8 ~
Trisorny 8 patients
8
2
Trisomy 8 mosaicism
21 1
7
Our case With Down’s syndrome Free trisorny Total
Total
1
29 1
5
4
9
27
12
39
history of irradiation or unusual medication during pregnancy. The proband was born at term following an uncomplicated pregnancy. Birth weight was 5,100 g, length 60 cm and head circumference 41.5 cm. A few minutes after birth he became tachypnoic, and because of asphyxia and apnoic episodes he was hospitalized (in the Children’s Hospital, Weiden i.d. OPf., West Germany). A cephalhematome, a left clavicular fracture and anaemia were observed. The child was examined repeatedly because of developmental retardation, and at the age of 12 months he was again admitted to the hospital. The clinical examination revealed (Fig. l a, lb, lc): large, dolicocephalic head; large, broad nose; antimongoloid slant of the palpebral fissures; mild epicanthus; strabismus convergens; thick, everted lower lip; low-set ears with a dysplastic configuration; a folded cartilagedeficient pinna and distorted concha; and high-arched palate. The hands showed no clinodactyly or camptodactyly. Mobility of joints, especially of finger joints, was limited. The toe joints were normal, and both patellae were present. Deep skin furrows on the palms and soles were also found. The genitalia were normal and both testes were descended. X-ray analysis showed a normal pelvis, horizontal ribs and coxa valga bilaterally. The patient was considered to be mildly mentally retarded.
30
RODEWALD, ZANKI, WISCHERATH AND BORKOWSKY-FEHR
Table 2
Dermatoglyphic findings in trisomy 8 patients Almost complete data
6 Trisomy 8 mosaicism
9
Insufficient data
P
6
6
P
7
our case 1 Free trisomy 8
Controls'
23
2
Total
Tottal
1
1
4
12
6
8
1
27
282
270
-
-
552
* 552 healthy persons from South Germany (Rodewald 1974).
At the age of 14 months, the height was 83.0 cm, weight 11.1 kg, head circumference 50 cm, distance between nipples 12 cm and trunk length 29 cm. A moderate statomotoric retardation was also noted. Laboratory tests, including red and white cells, urinary sediment, electrolytes, hematocrit, transaminases, creatinine, total protein, liquor-cerebro-spinalis, immuniglobulins and urinary aminoacids were within normal limits.
Ocular examination, EEG and ECG revealed no abnormalities. Distinct dermatoglyphic pattern combinations were found on the fingers, palms and soles. At a later evaluation, at the age of 20 months, the statomotoric development corresponded to 15 months, and mental development to 12 months. Cytogenetic Findings (Table 3 ) The chromosome preparations were per-
Fig. 1. The patient at the age of 12 months (a lateral view, b frontal view, and c total ventral view).
31
DERMATOGLYPHIC PATTERNS I N TRISOMY 8 SYNDROME Table 3
Cytogenetic findings of the propositus and his parents No. of chromosomes
45
46'
47"
Total
Age No. of analyzed metaphase plates Proband
a) lymphocytes
10 wk
5
30
17
52
16 mon
3
42
5
50
b) fibroblasts
16 mon
2
4
22
28
Father
a) lymphocytes
23 yr
6
15
Mother
a) lymphocytes
19 yr
5
10
-
23
21
* Normal karyotypes, 46,XY, and 46,XX. respectively. *' Karyotype 47,XY,+8.
formed from lymphocyte cultures (slightly modified method of Arakaki & Sparkes 1963) and skin fibroblasts (method described by Schwarzacher & Wolf 1970, and Schwarzacher et al. 1974). Repeated chromosome studies on separate blood (at the ages of 10 weeks, and 16 months) and skin cultures (at the age of 16 months) showed a chromosome constitution of 46,XY/47,XY, +C using standard methods. To identify the extra C-group chromosome, G- and Qbanding techniques were employed. All methods clearly showed the supernumerary chromosome to be a No. 8. The first cytogenetic analysis revealed mosaicism in a proportion of 2:l of normal/ trisomic cells in the lymphocytes (at the age of 10 weeks). The second cytogenetic analysis showed a reduction of trisomic cells in blood (proportion normalkrisomic lymphocytes was 8:1), but a high proportion of trisomic cells in skin fibroblasts (80%). No chromosomal abnormalities were found in the phenotypically normal mother and father of the propositus (Table 3). Dermatoglyphic Findings (Table 4 ) The results of the dermatoglyphic analysis of the proband and his parents are summarized in Table 4. The following atypical dermatoglyphic stigmata were found in
the patient: low total finger ridge count (TFRC); transverse direction of the papillary lines on the palms; bilateral simian and hypothenar creases; distally placed axial triradii (right t" and left t' position); high atd angle; additional triradii c' on the right and d' on the left hand; complicated pattern on the thenar/Jl (radial loop/cross bandl carpal loop); and distal loops in the 3rd and 4th interdigital areas. The patient showed a high palmar pattern intensity and dysplasia of the papillary lines, especially on the hypothenar. The patient also had a high pattern intensity on the soles, expressed by the presence of three large whorls on the right and of four whorls on the left plantar areas. A hallucal crease combined with two vertical creases, was present on both feet. There were four arches and six fibular loops on the toes. Another interesting feature was the presence of zygodactylous patterns (cross bands) with zygodactylous triradii z, z' and z" on the soles. No unusual findings were noted in the parents except for the presence of symmetrical whorls in the 3rd interdigital areas on the soles of the mother's feet. Material from the Literature In most cases (29), mosaicism was demon-
32
RODEWALD, ZANKI, WISCHERATH AND BORKOWSKY-FEHR
Table 4 Dermatoglyphic findings% Digital patterns Left
atd- angle
(W
Right
5
4
3
2
1
1
2
3
4
(W
5 T F R C L R L R
W*
U
U
Ws
Wd
U
Ws
U
Ws
U
118
Father
U
U
A
U
U
A
A
W9
U
105
41 43 10 12
Mother
U
W"
U
Ws
U
U U
U
U
Ws
U
179
45 40 35 33
Proband
57 83 18 45
Palmar patterns Dysplasia
a-bRC b-cRC c-dRC Proband
Father
Mother
R:11.9-7. 7.
5.-t"-AU/Ae
.Lr/O/Le
.V.Ld.Ld
44
34
29
L: 11-7.9. 7.
5. -t'-A"/AC
.LrIOILp
.V.Ld.L"
46
28
28
+ +
R: 9.7.5".
4. -t -A"
.O
.O.O.Ld
42
29
39
-
28
36
-
+ +
+ +
-
-
-
L: 9.7.5.
4. -t -A"
.O
.o.o.Ld
40
R: 11.9.7.
5'.-t'-A"/Ac
.O
.O.Ld.O
44
18
40
-
L: 11.9.7.
5'.-t'-A"/AC
.O
.o.Ld.0
51
18
37
-
3
4
5
Hallucalcrease
2 Vertical creases
F
A
Toe patterns Left 5
4
Proband
A
Father
F
Mother
A
Right 1
2
-
-
3
2
1
F
F
F
F
A
A
F
+I+
+it
F
w"
F
F
F
F
W"
F
F
-1-
-I-
Wd
F
F
F
F
F
W"
F
A
-1-
-1-
Dysplasia
P
P'
P"
e
f
2
+ + -
+ +
+
+ +
+ + + +
+ +
+ + -
Plantar patterns
Proband
R: Lt.Lp/W .Wy.Ws .V/Lt L: W'.W*
.WS.WS
.V/L'
Father:
R: Ws.V
.L".O
.V/Lt
L:L'.L'I
.o.o
.V/L'
Mother
R: L".L"
.Ws.O
.V/Lt
L: L".L"
.W'.O
.L'
-
-
+ + -
-
+ + + +
+
+ -
-
2'
+
2 ' 1
+
+
+
-
+
-
+
-
Nomenclature from Penrose (1968) I,Hypothenar crease.
a
strated. One case (Wilson et al. 1974) had a double autosomal trisomy: trisomy 21 and trisomy 8. Only in three cases (Casperson et al. 1972, Lejeune & Rethort 1973, Jacobsen et al. 1974) did both blood and skin chromosome analyses reveal a pure trisomic karyotype. Five other cases had pure trisomies in lymphocytes, but analysis o€ skin
fibroblasts was not done (Caspersson et al. 1972, Kakati et al. 1973, Dallapiccola & Gallenga 1974, de Grouchy et al. 1974, Sperber 1975). There was a preponderance of males (27 6/12 0 ; P < 0.01) with trisomy 8 syndrome (Table 1), but the reasons for this sex difference are not known at present.
33
DERMATOGLYPHIC PATTERNS IN TRISOMY 8 SYNDROME
Table 5 Fingertip patterns in trisomy 8 patients and controls ~
U
A
~
%
Trisomy 8 N = 190
57
30.0
82
43.2
7
3.7
Controls N = 5520
343
6.2
3,234
58.6
250
4.5
X' = 162.26; df = 3; P
N
W
N
N
~~
R Vn
oh
%
Unknown N Vo
42
22.1
2
1.1
1,693
30.7
-
-
N
< 0.001.
Almost complete dermatoglyphic data have been reported by Gustavson et al. (1967), Riccardi et al. (1970), Laurent et al. (1971), Bijlsma et al. (1972), Malpuech et al. (1972), Penrose (1972), Tuncbilek et al. (1972) and (1974), Jacobsen et al. (1974), Rutzler et al. (1974), Schaumann et al. (1974), Schinzel et al. (1974), Aller et al. (1975), Finernan et al. (1975), Giraud et al. (1975). Less complete data have been reported in several other cases (Table 2) of trisorny 8 (de Grouchy et al. 1971, Caspersson et al. 1972, Crandall et al. 1974, Dallapiccola & Gallenga 1974, Walravens et al. 1974, Wilson et al. 1974, Moore & Scott 1975, Singh et al. 1975, Sperber 1975). Results
In every patient with trisomy 8, an unusual combination of dermatoglyphic findings was noted. One unusual feature was the simultaneous presence of both arches and whorls on the fingertips of the same individual, a
phenomenon also seen in trisomy No. 13 (Penrose 1966). This is not a constant feature. It was observed in only four of the 19 reported cases. There was, furthermore, a markedly increased frequency of arches on the fingertips (Table 5). The total finger ridge count (TFRC) was found to be low in almost all cases in which this feature was recorded, varying between 32 and 189 (Table 6). A distally placed axial triradius t' and/or t" was found in 62.5 % of trisomy 8 patients and in 38.7 % of controls (Table 7). The maximal atd angle was increased (Table 8). The difference between controls and trisomy 8 patients was statistically significant. The incidence of hypothenar and thenar patterns was clearly increased in trisomy 8 patients (Table 9). There was a markedly increased frequency of true patterns (loops and whorls) in the 2nd, 3rd and 4th interdigital areas (Table 10). In addition, all the patients with
Table 6 TFRC mean values of trisomy 8 patients and of controls ~~~
Trisomy 8
(N = 11); j( = 96.09
Table 7 Distally placed axial triradii t' and/or t" in trisomy 8 patients and controls
k 49.99 Hands
Controls
(5 N = 282); (9 N = 270);
2 = 144.6 k 43.43 2 = 130.4 k 49.32
Trisomy 8/5 controls t = 3.17; f = 10.8; P = 0.005. Trisomy 8/P controls t = 2.23; f = 11.0; P = 0.025.
Trisomy 8 Controls
1' i t"
t
25 (62.5 o h ) 3011 (38.69 %)
15 (37.5 %) 796 (61.31 %)
X' = 22.41; df = 1; P
< 0.001.
34
RODEWALD, ZANKI, WISCHERATH AND BORKOWSKY-FEHR Table 8
Table 10
Mean values of the maximal atd angle
Percentage frequency of true patterns in the 2nd, 3rd and 4th interdigital areas
* 19.65
Trisomy 8 (N = 20)
X = 63.8
Controls (N = 1104)
X = 45.1 k
t = 4.25; f = 19.2; P
8.74
< 0.005.
Patterns Trisomy 8
(N = 24 palms,
trisomy 8 had a high palmar pattern intensity. The concomitant presence of true patterns (La, D, W) on all five palmar areas in the same individual was observed in three out of 22 palms, on four palmar areas in three out of 22 hands and on three palmar areas in nine out of 22 hands (Table 11). In most cases, a unilateral transverse four-finger crease (typical simian crease and/or a distal palmar crease ending near the first interdigital space) were found (Table 12). There was a markedly increased frequency of arches on the toes (80 %, N = 30). Bilateral arches on the great toes were found in eight out of nine patients (88.9 %), and in only 3.2 % of phenotypically normal individuals (Table 13). Arches only (Le., 10 arches on the toes in the same individual) were found in two out of three reported cases of trisomy 8 (Rutzler et al. 1974, Schinzel et al. 1974, and our case). An unusual finding in the trisomy 8 patients was the combination of bilateral
+w
W i n 1,
23.81 %
79.2 %
4.2 %
92.3 %
3.1 %
62.9 %
0.5
38.4 %
Ld
i n 13
Controls
(N = 1104
010
palms) XZ
= 15.16; df = 3; 0.01
> P > 0.001.
whorls in the hallucal areas of the sole with more than one additional whorl in the plantar interdigital areas. This was found in five out of nine patients with trisomy 8. The combination of a whorl in the hallucal areas with more than one additional whorl in the other plantar interdigital areas was seen in 13 out of 18 soles (Table 14). There was a markedly increased frequency of whorls in the plantar interdigital areas in trisomy 8 patients, as compared to the controls. In the control group, whorls were rare in the 2nd interdigital area, and extremely rare in the 4th area (only 0.6 %). However, both areas show a much higher incidence (38.9 % and 55.6 %, respectively) in the trisomy 8 patients (Table 15). A distinctive feature was the presence of zygodactylous triradii z, z’ and Z” on the soles. The concomitant presence of z, z’
Table 9
Tab:e 11
Percentage frequency of hypothenar and thenar patterns
Simultaneous presence of patterns on palmar areas in the same individual
Patterns
Hypothenar
Thenar
Trisomy 6
50.0
010
66.2 %’
Controls
36.6 %
8.5 %”
’ 4 whorls (16.16 0 1 0 ) ; N = 22. N = 1104.
Patterns
0
1
2
3
4
5
Trisomy 8 N = 22
0.0
4.5
27.3
40.9
13.6
13.6
Controls N = 800
1.8
50.0
36.3
8.8
2.5
0.7
* * 2 whorls ( 0.2 %); X2
L‘
i n 1,
Ld i n I 2
= 19.38; df = 1; P
< 0.001,
X2
= 43.53; df = 2; P
< 0.001
DERMATOGLYPHIC PATTERNS I N TRISOMY 8 SYNDROME
35
Table 12
Table 14
Presence of a simian crease in the trisomy 8 patients
T h e combinations of the whorls on the soles Hallucal whorl
TGz;i: Controls (N = 550) Xz
On One palm
On both palms
6 (35.3 %)
2 (11.8 %)
38 ( 6.9 %)
= 21.68; df = 2; P
23 ( 4.2 %)
Not present
9
489
(52.9 %)
(88.9 %)
Trisomy 6 N = 13 Controls N = 940
+O whorl 0.0
30.8
76.60
21.28
x2 = 193.44; df = 1; P
< 0.001,
and z” triradii in the same individual was observed in 33.3 % of soles from trisomy 8 patients but only in 4.8 % of soles from normal persons (Rodewald & Ziegelmayer 1977). Table 16 shows that all zygodactylous triradii exhibited a higher incidence in trisomy 8 patients than in control persons. Deep palmar and plantar skin furrows (“plis capitonnks”) were found in 68.2 % of trisomy 8 patients, and these represent a distinctive feature of trisomy 8 syndrome (Lejeune & RethorC 1973). They gradually disappear with time and consequently have not been observed in older patients, with the exception of the patient of Crandall et al. (1974) (20 yr) and the patient of Sperber (1975) (33 yr). Discussion
+1 whorl
+2
+3
whorls
whorls
53.8
15.4
2.12
0.0
< 0.001.
a characteristic pattern for this chromosomal syndrome. It is likely that there is a causal relationship between the chromosome abnormality and the dermatoglyphic findings. In 1974 and 1976, Schaumann et al. and Schaumann & Alter gave the first summaries of the dermatoglyphic data from nine patients with trisomy 8. They noted similarities in several unusual dermatoglyphic patterns among some of the patients, including: an increased frequency of arch patterns on the fingertips; low TFRC; high palmar and plantar pattern intensity; bilateral arches on the great toes; a simian crease; and deep palmar and plantar skin furrows. Figure 2a and b shows a “phantom picture” of a dermatoglyphic pattern combination of the hand and sole, characteristic for trisomy 8 syndrome. Many dermatoglyphic features are common to all of them, including: an excess of arches on the fingertips;
The remarkable similarities in the unusual dermatoglyphic features observed in the patients with trisomy 8 suggest that there is
Table 15
Frequency of whorls in the plantar interdigital areas Table 13
Bilateral arches on the great toes Trisomy 8 patients (N = 9)
8 (88.9 ” 0 )
Controls (N = 250)
8 ( 3.2 %)
Xz
= 109.23: df = 1; P
< 0.001.
Hallucal
12
11
11
72.2
38 9
83.3
55.8
Controls N = 1104
30.3
4.5
12.4
0.6
xz = 71.25; df = 3; P
< 0.001.
Trisomy 8 N = 18
36
RODEWALD, ZANKI, WISCHERATH AND BORKOWSKY-FEHR
Table 16
2
Percentage frequency of zygodactylous triradii on the soles
W
Trisomy 8 N = 12 Controls N = 1200 X*
= 40.15; df = 2; P
z
z‘
z”
83.3
75.0
75.0
40.7
15.2
2.8
1 A
A
< 0.001.
low TFRC; distally placed axial triradii t’ and t“; increased atd angle; additional interdigital triradii a’ and d’; unilateral simian crease; high frequency of arches on the toes; bilateral arches on the great toes; high palrnar and plantar pattern intensity, and deep skin furrows (“plis capitonnks”) on both palms and soles. All these differences between trisorny 8 patients and controls were statistically significant (Table 5 - Table 16). The proportion of diploid and trisornic cells in the mosaic trisomy 8 patients did not correlate with the extent of clinical and/ or derrnatoglyphic stigmata, nor with the degree of the handicap. No unusual clinical and dermatoglyphic findings were noted in the parents (five Fig. 2s. “Phantom picture’’ of the palm syndrome+. 1 = excess of arches on the fingertips 2 = presence of both arches end whorls, finger ridge count (TrRC) 3 = distally placed axial triradii 1’ and t” 4 = increased atd angle 5 = additional interdigital triradii a’ld’ 6 = unilateral simian crease 7 = deep palmar skin furrows 8 = high pattern intensity on palms Fig. 2b. “Phantom picture” of the sole syndrome+. 1 = high frequency of arches on the toes 2 = bilateral arches on the great toes 3 = zygodactylous triradii z , z’ and z” 4 = whorls in the hallucal and interdigital 4 = high pattern intensity on the soles 5 = deep plantar skin furrows + Nomenclature from Penrose (1968)
F
Trlsomy 8
low total
Trlsomy 8
areas
\
\ ; r ‘ 5
1 A
2 A
DERMATOGLYPHIC PATTERNS IN TRtSOMY 8 SYNDROME
fathers and 5 mothers) and unaffected sibs of patients with trisomy 8. As most of the patients showed mosaicism, the clinical picture is variable, and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. On the other hand, in five cases (Stalder et al. 1964, Neu et al. 1969, Schinzel et al. 1974, Moore & Scott 1975 and our case) mosaicism in blood lymphocytes disappeared with time. We would like to point out that in cases where the clinical and especially the dermatoglyphic features are suggestive of the trisomy 8 syndrome, and where a normal karyotype has been established in lymphocytes, a chromosomal examination in other tissues should be carried out to detect mosaicism. It is therefore desirable that pediatricians become aware of the dermatoglyphic picture of trisomy 8. These dermatoglyphic findings lend further support to the delineation of the trisomy 8 syndrome as a nosologic entity.
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