Hum. Genet. 49,229--235 (1979)
© by Springer-Verlag 1979
Partial Trisomy 16q Resulting From Maternal Translocation R Balestrazzi, G. G i o v a n n e l l i , L. Landucci R u b i n i l, a n d B. Dallapiccola 2 Istituto di Clinica Pediatrica, University of Parma, Italy Divisione Pediatrica, OORR of Parma 2Cattedra di Genetica Medica, University of Rome
Summary. A 3l/2-year-old male wit[a partial trisomy of the long a r m of c h r o m o s o m e 16 resulting from a m a t e r n a l balanced t r a n s l o c a t i o n is described. Karyotype: 46,XY,-22,der(22),t(16;22)(q21 ;p 12)mat.
Since the i n t r o d u c t i o n of c h r o m o s o m e b a n d i n g techniques, only one case of 16q trisomy has been described. This was f o u n d in a n e w b o r n male (47,XY,+16q) with multiple m a l f o r m a t i o n s who died at 7 weeks of age (Schmickel et al., 1975). This report concerns the only living case of partial 16q trisomy, a 31/2-year-old boy.
Case Report C.S. was initially observed at age 31/2years. The history can be summarized as follows: first and only child of unrelated parents (a 28-year-old mother and a 29-year-old father), born after a fullterm pregnancy characterized by poor fetal movements. Birth weight 2600 g. Artificial feeding from birth because of maternal agalactia; weight at 21/2months was 4700 g (10th percentile), at 4 months 7100g (75th percentile), at 16 months 10,200g (25th percentile), at 31/2 years 13kg (3rd-10th percentile), with height 94cm (10th-25th percentile) and head circumference 50cm (50th percentile). Marked periorbital edema, hydrocele, general hypotonia, and dry skin were present at birth. Poor sucking reflex during the first month of life, and since age 2 months frequent episodes of laryngitis. At age 4 months, because of the greatly increased hydrocele, the patient underwent surgery, which demonstrated a large cavity (hydrocele) on the right and a retroperitoneal cyst between the bladder and iliac vessels in communication with the peritonealvaginal canal. Both cavities contained 100ml of a citrine liquid. Sporadic episodes of seizures began at age 1~ years; at this time severe mental retardation was already evident. He was admitted to our department at age 31/2years because of pneumonia.
Physical Examination (Fig. 1) The child has dry skin with normal subcutaneous fat; an asymmetric skull withprominent occiput, high forehead, and thick and arched eyebrows; nose with broad root and bridge, bulbous tip, and long philtrum; narrow palpebral fissures with an antimongoloid slant; hypertelorism,
0340-6717/79/0049/0229/$01.40
230
E Balestrazzi et al.
Fig. 1. The proband at age 3I/: years
convergent strabismus, and unilateral epicanthus; constantly open mouth with a thin upper lip and hypoplastic lower lip; slight micrognathia; low-set ears with welMobulated helices, deep choncae, thick lobuli and prominent antitragi. A dense lanugo covers the short neck, the elevated shoulders, the back, and the upper limbs. The child has also a long and narrow thorax pectus excavatum, low-set nipples and increased internipple distance; kyphosis, left convex scoliosis in the dorsolumbar tract; globose and rhomboid abdomen with hypotonic muscles and an extruded umbilicus; hypoplastic penis (2.5 cm) and scrotum with testicles (1.5 ml) located at the entrance of the inguinal canal; stumpy
Partial Trisomy 16q Resulting From Maternal Translocation
231
hands with short fingers; genu valgum and pes valgus with an increased distance between the 1st and 2nd toes; slightly increased muscle tone in the lower limbs. Dermatoglyphics are normal and show the following formula: on the right on the left
UL, UL, UL, W, W, 7.5.5.5. t-0.0.0.0. L. UL, W, W, W,W, 9.7.5.5. t-0.0.0.0. L.
In both hands the superior palmar crease emerges between the 2nd and 3rd fingers.
Laboratory Data Routine blood and urinary analyses are normal. The EEG shows defective maturation of the alpha waves with slow posterior paroxisms. The ECG is normal. X-ray examination. Skeleton: asymmetric skull, kyphosis, left convex sc01iosis in the dorsolumbar tract, valgus femora, shortened metacarpal bones and distal phalanges. The bone age is 2 years. Digestive tract and IV urography are normal.
Fig. 2. GAG-banded karyotype of the propositus showing one abnormal chromosome 22
232
R Balestrazzi et al.
Fig. 3. Partial karyotype of the propositus (GAG banding)
Fig. 4. Partial karyotype of the patient's mother showing translocation 16/22 (GAG and CBG banding)
Partial Trisomy 16q Resulting From Maternal Translocation
233
Endocrinological investigations: the thyroid ~3~Iuptake at age 21/2 months was less than normal. Thyroid scintigram, TRH test, T3, ]'4, and RT3 are normal. Cytogenetic findings: chromosome analysis on the propositus were carried out on cultured lymphocytes after employing GAG-QFQ-RBA methods. Each of the 60 metaphases examined has 46 chromosomes, including one abnormal 22 chromosome (Figs. 2 and 3). The mother's karyotype, examined by GAG-QFQ-CBG banding (Fig. 4), shows a balanced translocation, 46,XX,t(16q-;22p+). The breakpoints are bands 16q21 and 22p12. Thus the maternal karyotype is 46,XX,t(16;22)(q21;p12) and the proband's is 46,XY,-22,+der(22), t(16;22)(q21;p12)mat. The child is therefore trisomic for the distal segment of the long arm of chromosome 16. The father's karyotype is normal.
Discussion A l t h o u g h c o m p l e t e 16 t r i s o m y is the m o s t c o m m o n trisomic state f o u n d a m o n g miscarriages (Bou6 a n d Bou6, 1975; Bou~ et al., 1976), it has never been described in live n e w b o r n s . Partial a n e u p l o i d i e s o f c h r o m o s o m e 16 are also often lethal a n d o n l y a few cases in live n e w b o r n s are k n o w n : a m o n o s o m y 16q21+qter was r e p o r t e d b y F r y n s et al. (1977); a m o s a i c i s m 46,XX,del(16q) was f o u n d b y Riccardi et al. (1977); Stern a n d M u r c h (1975) described a t r i s o m y 16pl2--*pter a s s o c i a t e d with t r i s o m y 18qll---Nter, a n d Saadi et al. ( 1 9 7 7 ) d e s c r i b e d a t r i s o m y 16p31--+pter a s s o c i a t e d with t r i s o m y 22p 12-+pter. A 1 6 q - t r i s o m y was r e p o r t e d by Yunis et al. (1977). The first case o f a p a r t i a l 16q trisomy, for an unspecified length, was studied with a u t o r a d i o g r a p h y a n d r e p o r t e d by Eriksson et al. (1971). The child was also deficient for a segment o f the long a r m o f c h r o m o s o m e 18, b u t we d o n ' t k n o w if a n d h o w it interfered. The p a t i e n t described b y Schmickel et al. (1975) showed a 1 6 p - trisomy; this is the only case studied with c h r o m o s o m e - b a n d i n g techniques. Both the p a t i e n t s d i e d p e r i n a t a l l y whereas o u r p a t i e n t is a l r e a d y 31/2years old. Thus a clinical c o m p a r i s o n with r e p o r t e d cases is difficult; h o w e v e r we tried to Table 1. Cytogenetic findings and anamnestic data of our patient, of patient with complete 16q trisomya, and of patient with partial 16q monosomyb Our case
Schmickel et al.a
Fryns et al.b
Familial chromosomal aberration t(16;22)(q21;p12)mat t(15;16)(pll;pll)mat ? Trisomic segment 16q21~qter 16pl 1--+qter -Monosomic segment 22pter -16q21~qter Parental age M / F 28/29 25/? 23/23 Gestational age (weeks) 40 40 38 Sex M M F Birth weight (g) 2600 1860 2550 Birth length (cm) ? 44 49 Birth head circumference (cm) ? 30.5 34 Age at observation 3~ years At birth At birth Survival Living 7 weeks 4 weeks
234
R B a l e s t r a z z i et al.
T a b l e 2. C l i n i c a l f e a t u r e s o f o u r p a t i e n t , o f p a t i e n t w i t h c o m p l e t e 1 6 q t r i s o m y a, a n d o f p a t i e n t with partial 16q monosomy b Our case
S c h m i c k e l et al."
F r y n s et al. b
+
+
+
-
+
+
Failure to thrive
-
+
+
Psychomotor
Low birth weight Scarse subcutaneous
fat
+
+
+
Mental retardation
retardation
+
?
?
Muscle tone
Hypertonic
Hypotonic
Hypertonic
Dry skin
+
+
-
Hypertrichosis
+
-
+
Asymmetric
+
+
-
High forehead
skull
+
+
+
Periorbital edema
At birth
-
-
Small palpebral fissures
+
+
+
Antimongoloid
+
+
Mongoloid
Epicanthus
slant
+
-
-
Hypertelorism
+
+
+
Strabismus
+
-
-
Broad nasal bridge
+
+
+
Long philtrum
+
+
+
Thin upper lip
+
?
Thick
Micrognathia
+
+
+
Low-set ears
+
+
+
-
+
+
Thick lobulus
+
+
Hypoplastic
Small, rounded
ears
Pectus excavatum
+
-
-
Globose abdomen
+
+
+
Flexion of fingers
+
+
+
Clinodactyly of 5th fingers
-
+
-
Hypoplastic genitalia
+
+
+
Cryptorchidism
+
+
F
Hydrocele
+
-
F
Foot deformity
-
+
+
Severe skeletal abnormalities
-
-
+
Retarded bone age
+
+
?
Short phalanges
+
+
?
Congenital heart disease
-
VSD
VDS
Intestinal malrotation
-
+
+
Cysts
+
+
-
Partial Trisomy 16q Resulting From Maternal Translocation
235
c o m p a r e the cytogenetic findings a n d clinical features o f our case with the ones d e s c r i b e d b y Schmickel a n d b y F r y n s (Tables 1 a n d 2). The latter r e p o r t e d the o n l y case o f n o n m o s a i c p a r t i a l 16q m o n o s o m y . F r o m p r e v i o u s r e p o r t s it is n o t possible at present to p i n p o i n t the clinical picture o f p a r t i a l 16q trisomy. As a m a t t e r o f fact the p a t i e n t described b y Schmickel was m o r e severely m a l f o r m e d t h a n ours; some features are d i s c o r d a n t a n d o t h e r features are p r e s e n t in countertype. O u r d a t a c o n f i r m t h a t p a r t i a l 16q t r i s o m y is c o m p a t i b l e with survival a n d does n o t a p p e a r be a s s o c i a t e d with gross a b n o r m a l i t i e s , b u t further studies are n e e d e d before a well-defined clinical picture will emerge.
References Bou6, A., Bou6, J.: Chromosome abnormalities and abortion. In: Physiology and genetics of reproduction, E. M. Coutinho, F. Fuchs, eds., Part B. New York: Plenum 1975 Bou6, J., Daketse, M. J., Deluchat, C., Yvert, F., Ravis6, N., Bou6, A.: Identification par les bandes Q et G des anomalies chromosomiques dans les avortements spontan6s. Ann. Genet. (Paris) 19, 233--239 (1976) Eriksson, B., Fraccaro, M., Hulten, H., Lindsten, J., Thoren, C., Tiepolo, L.: Structural abnormalities of chromosome 18. II. Two familial translocations, B/18 and 16/18, ascertained through unbalanced forms. Ann. Genet. (Paris) 14, 281--290 (1971) Fryns, J. P., Melchoir, F., Jaeken, J., van den Berghe, H.: Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21). Hum. Genet. 38, 343--346 (1977) Riccardi, V. M., Labhard, M., Marcus, E. S.: Hemihypertrophy with contralateral 16q chromosomal deletion. Am. J. Hum. Genet. 29, 91A (1977) Saadi, A. A1, Yang, S. S., Singla, P.: Partial trisomies of chromosome 22 and 16 in a microphthalmic infant. Am. J. Hum. Genet. 29, 18A (1977) Schmickel, R., Poznanski, A., Himebaugh, J.: 16q trisomy in a family with a balanced 15/16 translocation. Birth Defects XI, No. 5, 229--236 (1975) Stern, L. M., Murch, A. R.: Pseudohermaphroditism with clinical features of trisomy 18 in an infant trisomic for parts of chromosome 16 and 18: 47,XY,der(18)t(16;18)(p12;ql 1)mat. J. Med. Genet. 12, 305--307 (1975) Yunis, E., Gonzales, J. T., Tortes de Caballero, O. M.: Partial trisomy 16q. Hum. Genet. 38, 347--350 (1977) Received October 25, 1978
© by Springer-Verlag 1979
Partial Trisomy 16q Resulting From Maternal Translocation R Balestrazzi, G. G i o v a n n e l l i , L. Landucci R u b i n i l, a n d B. Dallapiccola 2 Istituto di Clinica Pediatrica, University of Parma, Italy Divisione Pediatrica, OORR of Parma 2Cattedra di Genetica Medica, University of Rome
Summary. A 3l/2-year-old male wit[a partial trisomy of the long a r m of c h r o m o s o m e 16 resulting from a m a t e r n a l balanced t r a n s l o c a t i o n is described. Karyotype: 46,XY,-22,der(22),t(16;22)(q21 ;p 12)mat.
Since the i n t r o d u c t i o n of c h r o m o s o m e b a n d i n g techniques, only one case of 16q trisomy has been described. This was f o u n d in a n e w b o r n male (47,XY,+16q) with multiple m a l f o r m a t i o n s who died at 7 weeks of age (Schmickel et al., 1975). This report concerns the only living case of partial 16q trisomy, a 31/2-year-old boy.
Case Report C.S. was initially observed at age 31/2years. The history can be summarized as follows: first and only child of unrelated parents (a 28-year-old mother and a 29-year-old father), born after a fullterm pregnancy characterized by poor fetal movements. Birth weight 2600 g. Artificial feeding from birth because of maternal agalactia; weight at 21/2months was 4700 g (10th percentile), at 4 months 7100g (75th percentile), at 16 months 10,200g (25th percentile), at 31/2 years 13kg (3rd-10th percentile), with height 94cm (10th-25th percentile) and head circumference 50cm (50th percentile). Marked periorbital edema, hydrocele, general hypotonia, and dry skin were present at birth. Poor sucking reflex during the first month of life, and since age 2 months frequent episodes of laryngitis. At age 4 months, because of the greatly increased hydrocele, the patient underwent surgery, which demonstrated a large cavity (hydrocele) on the right and a retroperitoneal cyst between the bladder and iliac vessels in communication with the peritonealvaginal canal. Both cavities contained 100ml of a citrine liquid. Sporadic episodes of seizures began at age 1~ years; at this time severe mental retardation was already evident. He was admitted to our department at age 31/2years because of pneumonia.
Physical Examination (Fig. 1) The child has dry skin with normal subcutaneous fat; an asymmetric skull withprominent occiput, high forehead, and thick and arched eyebrows; nose with broad root and bridge, bulbous tip, and long philtrum; narrow palpebral fissures with an antimongoloid slant; hypertelorism,
0340-6717/79/0049/0229/$01.40
230
E Balestrazzi et al.
Fig. 1. The proband at age 3I/: years
convergent strabismus, and unilateral epicanthus; constantly open mouth with a thin upper lip and hypoplastic lower lip; slight micrognathia; low-set ears with welMobulated helices, deep choncae, thick lobuli and prominent antitragi. A dense lanugo covers the short neck, the elevated shoulders, the back, and the upper limbs. The child has also a long and narrow thorax pectus excavatum, low-set nipples and increased internipple distance; kyphosis, left convex scoliosis in the dorsolumbar tract; globose and rhomboid abdomen with hypotonic muscles and an extruded umbilicus; hypoplastic penis (2.5 cm) and scrotum with testicles (1.5 ml) located at the entrance of the inguinal canal; stumpy
Partial Trisomy 16q Resulting From Maternal Translocation
231
hands with short fingers; genu valgum and pes valgus with an increased distance between the 1st and 2nd toes; slightly increased muscle tone in the lower limbs. Dermatoglyphics are normal and show the following formula: on the right on the left
UL, UL, UL, W, W, 7.5.5.5. t-0.0.0.0. L. UL, W, W, W,W, 9.7.5.5. t-0.0.0.0. L.
In both hands the superior palmar crease emerges between the 2nd and 3rd fingers.
Laboratory Data Routine blood and urinary analyses are normal. The EEG shows defective maturation of the alpha waves with slow posterior paroxisms. The ECG is normal. X-ray examination. Skeleton: asymmetric skull, kyphosis, left convex sc01iosis in the dorsolumbar tract, valgus femora, shortened metacarpal bones and distal phalanges. The bone age is 2 years. Digestive tract and IV urography are normal.
Fig. 2. GAG-banded karyotype of the propositus showing one abnormal chromosome 22
232
R Balestrazzi et al.
Fig. 3. Partial karyotype of the propositus (GAG banding)
Fig. 4. Partial karyotype of the patient's mother showing translocation 16/22 (GAG and CBG banding)
Partial Trisomy 16q Resulting From Maternal Translocation
233
Endocrinological investigations: the thyroid ~3~Iuptake at age 21/2 months was less than normal. Thyroid scintigram, TRH test, T3, ]'4, and RT3 are normal. Cytogenetic findings: chromosome analysis on the propositus were carried out on cultured lymphocytes after employing GAG-QFQ-RBA methods. Each of the 60 metaphases examined has 46 chromosomes, including one abnormal 22 chromosome (Figs. 2 and 3). The mother's karyotype, examined by GAG-QFQ-CBG banding (Fig. 4), shows a balanced translocation, 46,XX,t(16q-;22p+). The breakpoints are bands 16q21 and 22p12. Thus the maternal karyotype is 46,XX,t(16;22)(q21;p12) and the proband's is 46,XY,-22,+der(22), t(16;22)(q21;p12)mat. The child is therefore trisomic for the distal segment of the long arm of chromosome 16. The father's karyotype is normal.
Discussion A l t h o u g h c o m p l e t e 16 t r i s o m y is the m o s t c o m m o n trisomic state f o u n d a m o n g miscarriages (Bou6 a n d Bou6, 1975; Bou~ et al., 1976), it has never been described in live n e w b o r n s . Partial a n e u p l o i d i e s o f c h r o m o s o m e 16 are also often lethal a n d o n l y a few cases in live n e w b o r n s are k n o w n : a m o n o s o m y 16q21+qter was r e p o r t e d b y F r y n s et al. (1977); a m o s a i c i s m 46,XX,del(16q) was f o u n d b y Riccardi et al. (1977); Stern a n d M u r c h (1975) described a t r i s o m y 16pl2--*pter a s s o c i a t e d with t r i s o m y 18qll---Nter, a n d Saadi et al. ( 1 9 7 7 ) d e s c r i b e d a t r i s o m y 16p31--+pter a s s o c i a t e d with t r i s o m y 22p 12-+pter. A 1 6 q - t r i s o m y was r e p o r t e d by Yunis et al. (1977). The first case o f a p a r t i a l 16q trisomy, for an unspecified length, was studied with a u t o r a d i o g r a p h y a n d r e p o r t e d by Eriksson et al. (1971). The child was also deficient for a segment o f the long a r m o f c h r o m o s o m e 18, b u t we d o n ' t k n o w if a n d h o w it interfered. The p a t i e n t described b y Schmickel et al. (1975) showed a 1 6 p - trisomy; this is the only case studied with c h r o m o s o m e - b a n d i n g techniques. Both the p a t i e n t s d i e d p e r i n a t a l l y whereas o u r p a t i e n t is a l r e a d y 31/2years old. Thus a clinical c o m p a r i s o n with r e p o r t e d cases is difficult; h o w e v e r we tried to Table 1. Cytogenetic findings and anamnestic data of our patient, of patient with complete 16q trisomya, and of patient with partial 16q monosomyb Our case
Schmickel et al.a
Fryns et al.b
Familial chromosomal aberration t(16;22)(q21;p12)mat t(15;16)(pll;pll)mat ? Trisomic segment 16q21~qter 16pl 1--+qter -Monosomic segment 22pter -16q21~qter Parental age M / F 28/29 25/? 23/23 Gestational age (weeks) 40 40 38 Sex M M F Birth weight (g) 2600 1860 2550 Birth length (cm) ? 44 49 Birth head circumference (cm) ? 30.5 34 Age at observation 3~ years At birth At birth Survival Living 7 weeks 4 weeks
234
R B a l e s t r a z z i et al.
T a b l e 2. C l i n i c a l f e a t u r e s o f o u r p a t i e n t , o f p a t i e n t w i t h c o m p l e t e 1 6 q t r i s o m y a, a n d o f p a t i e n t with partial 16q monosomy b Our case
S c h m i c k e l et al."
F r y n s et al. b
+
+
+
-
+
+
Failure to thrive
-
+
+
Psychomotor
Low birth weight Scarse subcutaneous
fat
+
+
+
Mental retardation
retardation
+
?
?
Muscle tone
Hypertonic
Hypotonic
Hypertonic
Dry skin
+
+
-
Hypertrichosis
+
-
+
Asymmetric
+
+
-
High forehead
skull
+
+
+
Periorbital edema
At birth
-
-
Small palpebral fissures
+
+
+
Antimongoloid
+
+
Mongoloid
Epicanthus
slant
+
-
-
Hypertelorism
+
+
+
Strabismus
+
-
-
Broad nasal bridge
+
+
+
Long philtrum
+
+
+
Thin upper lip
+
?
Thick
Micrognathia
+
+
+
Low-set ears
+
+
+
-
+
+
Thick lobulus
+
+
Hypoplastic
Small, rounded
ears
Pectus excavatum
+
-
-
Globose abdomen
+
+
+
Flexion of fingers
+
+
+
Clinodactyly of 5th fingers
-
+
-
Hypoplastic genitalia
+
+
+
Cryptorchidism
+
+
F
Hydrocele
+
-
F
Foot deformity
-
+
+
Severe skeletal abnormalities
-
-
+
Retarded bone age
+
+
?
Short phalanges
+
+
?
Congenital heart disease
-
VSD
VDS
Intestinal malrotation
-
+
+
Cysts
+
+
-
Partial Trisomy 16q Resulting From Maternal Translocation
235
c o m p a r e the cytogenetic findings a n d clinical features o f our case with the ones d e s c r i b e d b y Schmickel a n d b y F r y n s (Tables 1 a n d 2). The latter r e p o r t e d the o n l y case o f n o n m o s a i c p a r t i a l 16q m o n o s o m y . F r o m p r e v i o u s r e p o r t s it is n o t possible at present to p i n p o i n t the clinical picture o f p a r t i a l 16q trisomy. As a m a t t e r o f fact the p a t i e n t described b y Schmickel was m o r e severely m a l f o r m e d t h a n ours; some features are d i s c o r d a n t a n d o t h e r features are p r e s e n t in countertype. O u r d a t a c o n f i r m t h a t p a r t i a l 16q t r i s o m y is c o m p a t i b l e with survival a n d does n o t a p p e a r be a s s o c i a t e d with gross a b n o r m a l i t i e s , b u t further studies are n e e d e d before a well-defined clinical picture will emerge.
References Bou6, A., Bou6, J.: Chromosome abnormalities and abortion. In: Physiology and genetics of reproduction, E. M. Coutinho, F. Fuchs, eds., Part B. New York: Plenum 1975 Bou6, J., Daketse, M. J., Deluchat, C., Yvert, F., Ravis6, N., Bou6, A.: Identification par les bandes Q et G des anomalies chromosomiques dans les avortements spontan6s. Ann. Genet. (Paris) 19, 233--239 (1976) Eriksson, B., Fraccaro, M., Hulten, H., Lindsten, J., Thoren, C., Tiepolo, L.: Structural abnormalities of chromosome 18. II. Two familial translocations, B/18 and 16/18, ascertained through unbalanced forms. Ann. Genet. (Paris) 14, 281--290 (1971) Fryns, J. P., Melchoir, F., Jaeken, J., van den Berghe, H.: Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21). Hum. Genet. 38, 343--346 (1977) Riccardi, V. M., Labhard, M., Marcus, E. S.: Hemihypertrophy with contralateral 16q chromosomal deletion. Am. J. Hum. Genet. 29, 91A (1977) Saadi, A. A1, Yang, S. S., Singla, P.: Partial trisomies of chromosome 22 and 16 in a microphthalmic infant. Am. J. Hum. Genet. 29, 18A (1977) Schmickel, R., Poznanski, A., Himebaugh, J.: 16q trisomy in a family with a balanced 15/16 translocation. Birth Defects XI, No. 5, 229--236 (1975) Stern, L. M., Murch, A. R.: Pseudohermaphroditism with clinical features of trisomy 18 in an infant trisomic for parts of chromosome 16 and 18: 47,XY,der(18)t(16;18)(p12;ql 1)mat. J. Med. Genet. 12, 305--307 (1975) Yunis, E., Gonzales, J. T., Tortes de Caballero, O. M.: Partial trisomy 16q. Hum. Genet. 38, 347--350 (1977) Received October 25, 1978
