Hum. Genet. 38,131--135 (1977) © by Springer-Verlag 1977
Mosaic Trisomy 9: Two Additional Cases M a r l e e n R. T r o p p a n d Marie Currie Pathology Department, Royal Children's Hospital, Melbourne, Australia
S u m m a r y . Two u n r e l a t e d patients were f o u n d to be mosaic for an extra chrom o s o m e 9 ( 4 6 , X X / 4 7 , X X , + 9 ) . The first p a t i e n t showed a p r o m i n e n t nose, deep set eyes, carp shaped m o u t h a n d complex congenital cardiac anomalies. She died of congestive cardiac failure at the age of 10 days. The second patient, was a 7~2 year old female who had persistent alacrimia a n d m e n t a l retardation.
Introduction U n t i l the recent d e v e l o p m e n t Of b a n d i n g techniques the C trisomies a n d C trisomy mosaics represent a clinically divergent group of patients. Now, with the possibility of identifying the p a r t i c u l a r C c h r o m o s o m e involved, the group is b r e a k i n g d o w n into several m o r e distinct entities. We report two a d d i t i o n a l cases of trisomy 9 mosaicism, b o t h confirmed by giemsa b a n d i n g .
Case Reports & C. S.C. was the product of a normal full term pregnancy and was delivered as a breech with extended legs. Nine hours after birth the patient was cyanosed and had a soft systolic murmur. At 15 h, severe hypoglycaemia was noted. Correction of the hypoglycaemia failed to improve the child and she was transferred to the Royal Children's Hospital for investigation. On admission she was 2.7kg in weight, 48 cm long and the head circumference 32.5 cm. The facies was unusual with a prominent nose, deep set eyes and a carp shaped mouth. The ears were large and simple but normally set (see Fig. 1). There was loose skin on the neck. Both hands had long transverse palmar creases. The feet had longitudinal creases running from the first toe space towards the lateral aspect of the heel (see Fig.2). The child was neurologically depressed. Bone marrow aspiration showed the presence of an extra C chromosome. No active treatment was undertaken and the child died of cardiac failure at 10 days of age. At post mortem the heart had a ventricular septal defect, patent ductus arteriosus, arterial septal defect, pulmonary valve atresia and tricuspid valve dysplasia. The brain had a small subependymal cyst in the left lateral ventricle. There were small subarachnoid and subdural haemorrhages. Glomerular and tubular cysts of the kidney were noted.
132
M.R. Tropp and M. Currie
Fig. 1. S. C.'s facial appearance showing unusual facies Fig. 2. Soles of S. C.'s feet. Note unusual creases
C . B . C . B . is the only child of a 26-year-old mother and a 33-year-old father. The baby was born after a normal pregnancy and weighed 2325 g. She was evaluated at 7 years because of persistent alacrimia. She was mentally retarded and attended a special school. Her growth had been satisfactory. On examination she appeared short, had low set ears and hypotelorism. Her height was 111 cm (less than 3rd percentile) and weight 22kg (25th percentile).
Cytogenetic Examination and Results C h r o m o s o m e s f r o m b l o o d c u l t u r e s o f b o t h p a t i e n t s w e r e s t u d i e d a c c o r d i n g to a m o d i f i c a t i o n o f t h e m e t h o d o f M o o r h e a d et al. (1960). I n a d d i t i o n S . C . h a d
Table 1. Results of chromosome analysis Patient
Tissue
46,XX
47,XX,+9
Trisomy 9 cells (%)
S.C.
Blood Bone marrow Skin
47 11 39
1 12 1
2.1 52.2 2.5
C.B.
Blood
65
4
5.8
Mosaic T r i s o m y 9: T w o Additional Cases
133
chromosomes
studied from skin fibroblast culture and a bone marrow
She also had
a buccal
containing (Table
smear
which
was found
specimen.
t o b e p o s i t i v e , w i t h n o ceils
2 Barr bodies. In both patients the karyotype was 46,XX/47,XX,+C
1). T h e e x t r a c h r o m o s o m e
using a modification
was identified as a No. 9 by giemsa banding,
of the methods
o f S u m n e r et al. ( 1 9 7 2 ) a n d C r o s s e n ( 1 9 7 2 ) .
Discussion There
is
a
mosaicism.
great
clinical
However,
divergence
between
the
patients
with
trisomy
C
w i t h t h e a d v e n t o f n e w t e c h n i q u e s it m a y b e p o s s i b l e t h a t
Table 2. Clinical findings in trisomy 9 (adapted from Schinzel et al., 1974) 1.
2.
3.
4.
S.C.
C.B.
Age at examination
9yrs
7-9wks
6wks
4wks
10days
71/2yrs
Sex
M
M
M
M
F
F
L o w birth weight
+
+
+
-
+
+
P s y c h o m o t o r retardation
+
+
?
+
+
+
Short stature
+
+
-
+
+
+
Microcephaly
(i)
-
+
+
-
-
Hypertelorism
-
+
-
+
-
-
Hypotelorism
-
-
+
-
-
+
N a r r o w palpebral fissures
-
+
+
+
-
-
Anti m o n g o l o i d position of eyes
.
Mongoloid position of eyes
-
+
+
+
?
-
Deeply set eyes
+
+
-
+
+
-
.
.
.
?
L o w set a n d / o r m a l f o r m e d ears
+
+
+
+
+
+
Broad nose with b u l b o u s tip
-
+
(ii)
+
(ii)
-
P r o m i n e n t maxilla
-
+
-
+
-
+
Short mandible
+
+
+
+
-
-
H i g h arched palate
+
+
+
-
-
-
Cryptorchidism
+
+
+
-
0
0
Simian creases
+
+
+
-
(iii)
-
U n u s u a l sole creases
?
?
?
?
+
-
Brain m a l f o r m a t i o n
+
~
-
+
+
Congenital heart failure
+
-
+
+
+
-
G r o s s skeletal anomalies
+
-
+
+
-
-
+ present, _+ slightly, - absent, ? not k n o w n , 0 not applicable (i) H y d r o c e p h a l u s (ii) Prominent nose (iii) U n u s u a l p a l m a r creases 1. 2. 3. 4.
H a s l a m et al. (1973) Schinzel et al. (1974) Bowen et al. (1974) Feingold and Atkins (1973)
134
M. R. Tropp and M. Currie
Table 3. Mosaicism found in four reported cases Patient
Tissue
46,XY
4 7 , X Y , + 9 Trisomy 9 cells (%)
1.
Blood Skin
59 46
4 4
2.
Blood Skin
49 100
51 0
51 0
3.
Blood Skin
88 100
12 0
12 0
4.
Blood
0
63
100
1. 2. 3. 4.
Haslam et al. (1973) Schinzel et al. (1974) Bowen et al. (1974) Feingold and Atkins (1973)
6.3 8.0
trisomy C mosaics can be divided into distinctive syndromes associated with a particular chromosome, as has been done with trisomy 8 (Tuncbilek, 1974). Four patients with trisomy 9 have been reported previously, three of these were mosaics [patient No. 1 (Haslam et al., 1973), No. 2 (Schinzel et al., 1974), and No. 3 (Bowen et al., 1974)] and one was a non-mosaic [No. 4 (Feingold and Atkins, 1973)]. "Acquired" (Knight et al., 1974) and "constitutional" (Djernes et al., 1976) trisomy 9 cell lines have also been reported in leukaemic patients. These, shall not be discussed here. Schinzel et al. (1974) reviewed cases No. 1 and 4 and his own, and found similarities consisting of a "peculiar facial dysmorphia" and "variable malformations of brain, heart and skeletal system". A current review of the literature including all six cases (see Table 2) shows that C.B. has fewer dysmorphic features than the other five patients. S. C. has some features, including congenital heart failure, deeply set eyes and brain malformation which appear to be frequent clinical findings (Table 2). It is appropriate to compare the two patients who survived the neonatal period i.e. No. 1 and C.B. They both lack the "peculiar facial dysmorphia" seen in the younger patients, but were mentally retarded. Possibly, our patients had a lower degree of mosaicism than those reported by Schinzel et al. (1974). This is difficult to ascertain because the degree of mosaicism shows a large variation between tissues. (Unfortunately, the only tissue studied in C.B. was peripheral blood). Richards (1969) has reported that the percentage of trisomic cells in mosaic mongolism is higher in skin than in blood. This has not been seen in the reports o f t r i s o m y 9 mosaics where both skin and blood were studied. The older patients have a comparitively low number of trisomy 9 cells (see Tables 1 and 3). This can be attributed to a progressive loss of the trisomic cell line from the blood with age. It has been suggested that selection favouring one stem line, and notably the normal stemline, may take place in vivo. This has been
Mosaic Trisomy 9: Two Additional Cases
135
s h o w n in several cases including a G t r i s o m y m o s a i c (Taylor, 1968), a D / G t r a n s l o c a t i o n m o s a i c ( P o r t e r et al., 1969), a n d in a C t r i s o m y m o s a i c (Neu et al., 1969). T h e r e are m a n y difficulties in c o m p a r i n g the clinical features o f patients with m o s a i c i s m . T h e r a t i o o f n o r m a l to a b n o r m a l cells c o u l d p r o d u c e a range o f clinical pictures a n d if clinical features are slight, then cytogenetic studies m a y n o t be done. Conversely, if n o t e n o u g h cells are c o u n t e d a m o s a i c which has arisen at a late cleavage m a y be missed (Richards, 1969). S y n d r o m e s like m o n g o l i s m have a clear clinical picture in the n o n - m o s a i c f o r m to which the m o s a i c f o r m can be c o m p a r e d , t r i s o m y 9 m o s a i c i s m does not. Thus, there is no established c o m m o n denominator. F u r t h e r case r e p o r t s m a y eventually delineate a clear clinical picture o f trisomy 9 mosaicism. Acknowledgement. We thank Dr. I. P. McIntyre for providing the clinical notes on C.B.
References Bowen, P., Ying, K. L., Chung, G. H. S.: Trisomy 9 mosaicism in a newborn infant with multiple malformations. J. Pediat. 85, 95--97 (1974) Crossen, P. E.: Giemsa banding patterns of human chromosomes. Clin. Genet. 3, 169--179 (1972) Djernes, B. W., Sookup, S. W., Bove, K. E., Wong, K. Y.: Congenital leukemia associated with mosaic trisomy 9. J. Pediat. 38, 596--597 (1976) Feingold, M., Atkins, L.: A case of trisomy 9. J. Med. Genet. 10, 184--187 (1973) Haslam, R. H. A., Broske, S. P., Moore, C. M., Thomas, G. H., Neill, C.: Trisomy 9 mosaics with multiple congenital anomalies. J. Med. Genet. 10, 180--184 (1973) Knight, L. A., Davidson, W. M., Cuddigan, B. J.: Letter:Acquired trisomy 9. Lancet 19741, 688 Moorhead, P. S., Nowell, P. C., Mellmann, W. J., Battips, D. M., Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res. 20, 613--616 (1960) Neu, R. L., Bargman, G. J., Gardner, L. I.: Disappearance ofa 47,XX,C+ leucocyte cell line in an infant who had previously exhibited 46,XX/47,XXC+ mosaicism. Pediat. 43, 623--626 (1969) Porter, I. H., Brown, C. D., Gergosian, L. A., Paul, B. A.: Evidence of selection in mosaicism. J. Med. Genet. 6, 310--313 (1969) Richards, B. W.: Mosaic mongolism. J. Ment. Defic. Res. 13, 66--83 (1969) Schinzel, A., Hayashi, K., Schmid, W.: Mosaic trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik 25, 171--177 (1974) Summer, A. T., Evans, H. J., Buckland, R. A.: A new technique for distinguishing between human chromosomes. Nature New Biol. 232, 31--32 (1971) Taylor, A. I.: Cell selection in vivo in normal/G trisomic mosaics. Nature 219, 1028--1030 (1968) Tuncbilek, E., Halicioglu, C., Say, B.: Trisomy 8 syndrome. Humangenetik 23, 23--29 (1974) Received November 18, 1976 / March 15, 1977 Note Added in Proof After this paper was submitted, two further cases of trisomy 9 were reported (Seabright, M., Gregson, N. and Mould, S.: Trisomy 9 associated with an enlarged 9qh segment in a liverborn. Hum. Genet. 34, 323--325 (1976); Sutherland, G. R., Carter, R. F. and Morris, L. L.: Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome. Hum. Genet. 32, 133--140 (1976)). Both patients exhibited a facial dysmorphia very similar to the description in this report, and both had congenital heart defects.
Mosaic Trisomy 9: Two Additional Cases M a r l e e n R. T r o p p a n d Marie Currie Pathology Department, Royal Children's Hospital, Melbourne, Australia
S u m m a r y . Two u n r e l a t e d patients were f o u n d to be mosaic for an extra chrom o s o m e 9 ( 4 6 , X X / 4 7 , X X , + 9 ) . The first p a t i e n t showed a p r o m i n e n t nose, deep set eyes, carp shaped m o u t h a n d complex congenital cardiac anomalies. She died of congestive cardiac failure at the age of 10 days. The second patient, was a 7~2 year old female who had persistent alacrimia a n d m e n t a l retardation.
Introduction U n t i l the recent d e v e l o p m e n t Of b a n d i n g techniques the C trisomies a n d C trisomy mosaics represent a clinically divergent group of patients. Now, with the possibility of identifying the p a r t i c u l a r C c h r o m o s o m e involved, the group is b r e a k i n g d o w n into several m o r e distinct entities. We report two a d d i t i o n a l cases of trisomy 9 mosaicism, b o t h confirmed by giemsa b a n d i n g .
Case Reports & C. S.C. was the product of a normal full term pregnancy and was delivered as a breech with extended legs. Nine hours after birth the patient was cyanosed and had a soft systolic murmur. At 15 h, severe hypoglycaemia was noted. Correction of the hypoglycaemia failed to improve the child and she was transferred to the Royal Children's Hospital for investigation. On admission she was 2.7kg in weight, 48 cm long and the head circumference 32.5 cm. The facies was unusual with a prominent nose, deep set eyes and a carp shaped mouth. The ears were large and simple but normally set (see Fig. 1). There was loose skin on the neck. Both hands had long transverse palmar creases. The feet had longitudinal creases running from the first toe space towards the lateral aspect of the heel (see Fig.2). The child was neurologically depressed. Bone marrow aspiration showed the presence of an extra C chromosome. No active treatment was undertaken and the child died of cardiac failure at 10 days of age. At post mortem the heart had a ventricular septal defect, patent ductus arteriosus, arterial septal defect, pulmonary valve atresia and tricuspid valve dysplasia. The brain had a small subependymal cyst in the left lateral ventricle. There were small subarachnoid and subdural haemorrhages. Glomerular and tubular cysts of the kidney were noted.
132
M.R. Tropp and M. Currie
Fig. 1. S. C.'s facial appearance showing unusual facies Fig. 2. Soles of S. C.'s feet. Note unusual creases
C . B . C . B . is the only child of a 26-year-old mother and a 33-year-old father. The baby was born after a normal pregnancy and weighed 2325 g. She was evaluated at 7 years because of persistent alacrimia. She was mentally retarded and attended a special school. Her growth had been satisfactory. On examination she appeared short, had low set ears and hypotelorism. Her height was 111 cm (less than 3rd percentile) and weight 22kg (25th percentile).
Cytogenetic Examination and Results C h r o m o s o m e s f r o m b l o o d c u l t u r e s o f b o t h p a t i e n t s w e r e s t u d i e d a c c o r d i n g to a m o d i f i c a t i o n o f t h e m e t h o d o f M o o r h e a d et al. (1960). I n a d d i t i o n S . C . h a d
Table 1. Results of chromosome analysis Patient
Tissue
46,XX
47,XX,+9
Trisomy 9 cells (%)
S.C.
Blood Bone marrow Skin
47 11 39
1 12 1
2.1 52.2 2.5
C.B.
Blood
65
4
5.8
Mosaic T r i s o m y 9: T w o Additional Cases
133
chromosomes
studied from skin fibroblast culture and a bone marrow
She also had
a buccal
containing (Table
smear
which
was found
specimen.
t o b e p o s i t i v e , w i t h n o ceils
2 Barr bodies. In both patients the karyotype was 46,XX/47,XX,+C
1). T h e e x t r a c h r o m o s o m e
using a modification
was identified as a No. 9 by giemsa banding,
of the methods
o f S u m n e r et al. ( 1 9 7 2 ) a n d C r o s s e n ( 1 9 7 2 ) .
Discussion There
is
a
mosaicism.
great
clinical
However,
divergence
between
the
patients
with
trisomy
C
w i t h t h e a d v e n t o f n e w t e c h n i q u e s it m a y b e p o s s i b l e t h a t
Table 2. Clinical findings in trisomy 9 (adapted from Schinzel et al., 1974) 1.
2.
3.
4.
S.C.
C.B.
Age at examination
9yrs
7-9wks
6wks
4wks
10days
71/2yrs
Sex
M
M
M
M
F
F
L o w birth weight
+
+
+
-
+
+
P s y c h o m o t o r retardation
+
+
?
+
+
+
Short stature
+
+
-
+
+
+
Microcephaly
(i)
-
+
+
-
-
Hypertelorism
-
+
-
+
-
-
Hypotelorism
-
-
+
-
-
+
N a r r o w palpebral fissures
-
+
+
+
-
-
Anti m o n g o l o i d position of eyes
.
Mongoloid position of eyes
-
+
+
+
?
-
Deeply set eyes
+
+
-
+
+
-
.
.
.
?
L o w set a n d / o r m a l f o r m e d ears
+
+
+
+
+
+
Broad nose with b u l b o u s tip
-
+
(ii)
+
(ii)
-
P r o m i n e n t maxilla
-
+
-
+
-
+
Short mandible
+
+
+
+
-
-
H i g h arched palate
+
+
+
-
-
-
Cryptorchidism
+
+
+
-
0
0
Simian creases
+
+
+
-
(iii)
-
U n u s u a l sole creases
?
?
?
?
+
-
Brain m a l f o r m a t i o n
+
~
-
+
+
Congenital heart failure
+
-
+
+
+
-
G r o s s skeletal anomalies
+
-
+
+
-
-
+ present, _+ slightly, - absent, ? not k n o w n , 0 not applicable (i) H y d r o c e p h a l u s (ii) Prominent nose (iii) U n u s u a l p a l m a r creases 1. 2. 3. 4.
H a s l a m et al. (1973) Schinzel et al. (1974) Bowen et al. (1974) Feingold and Atkins (1973)
134
M. R. Tropp and M. Currie
Table 3. Mosaicism found in four reported cases Patient
Tissue
46,XY
4 7 , X Y , + 9 Trisomy 9 cells (%)
1.
Blood Skin
59 46
4 4
2.
Blood Skin
49 100
51 0
51 0
3.
Blood Skin
88 100
12 0
12 0
4.
Blood
0
63
100
1. 2. 3. 4.
Haslam et al. (1973) Schinzel et al. (1974) Bowen et al. (1974) Feingold and Atkins (1973)
6.3 8.0
trisomy C mosaics can be divided into distinctive syndromes associated with a particular chromosome, as has been done with trisomy 8 (Tuncbilek, 1974). Four patients with trisomy 9 have been reported previously, three of these were mosaics [patient No. 1 (Haslam et al., 1973), No. 2 (Schinzel et al., 1974), and No. 3 (Bowen et al., 1974)] and one was a non-mosaic [No. 4 (Feingold and Atkins, 1973)]. "Acquired" (Knight et al., 1974) and "constitutional" (Djernes et al., 1976) trisomy 9 cell lines have also been reported in leukaemic patients. These, shall not be discussed here. Schinzel et al. (1974) reviewed cases No. 1 and 4 and his own, and found similarities consisting of a "peculiar facial dysmorphia" and "variable malformations of brain, heart and skeletal system". A current review of the literature including all six cases (see Table 2) shows that C.B. has fewer dysmorphic features than the other five patients. S. C. has some features, including congenital heart failure, deeply set eyes and brain malformation which appear to be frequent clinical findings (Table 2). It is appropriate to compare the two patients who survived the neonatal period i.e. No. 1 and C.B. They both lack the "peculiar facial dysmorphia" seen in the younger patients, but were mentally retarded. Possibly, our patients had a lower degree of mosaicism than those reported by Schinzel et al. (1974). This is difficult to ascertain because the degree of mosaicism shows a large variation between tissues. (Unfortunately, the only tissue studied in C.B. was peripheral blood). Richards (1969) has reported that the percentage of trisomic cells in mosaic mongolism is higher in skin than in blood. This has not been seen in the reports o f t r i s o m y 9 mosaics where both skin and blood were studied. The older patients have a comparitively low number of trisomy 9 cells (see Tables 1 and 3). This can be attributed to a progressive loss of the trisomic cell line from the blood with age. It has been suggested that selection favouring one stem line, and notably the normal stemline, may take place in vivo. This has been
Mosaic Trisomy 9: Two Additional Cases
135
s h o w n in several cases including a G t r i s o m y m o s a i c (Taylor, 1968), a D / G t r a n s l o c a t i o n m o s a i c ( P o r t e r et al., 1969), a n d in a C t r i s o m y m o s a i c (Neu et al., 1969). T h e r e are m a n y difficulties in c o m p a r i n g the clinical features o f patients with m o s a i c i s m . T h e r a t i o o f n o r m a l to a b n o r m a l cells c o u l d p r o d u c e a range o f clinical pictures a n d if clinical features are slight, then cytogenetic studies m a y n o t be done. Conversely, if n o t e n o u g h cells are c o u n t e d a m o s a i c which has arisen at a late cleavage m a y be missed (Richards, 1969). S y n d r o m e s like m o n g o l i s m have a clear clinical picture in the n o n - m o s a i c f o r m to which the m o s a i c f o r m can be c o m p a r e d , t r i s o m y 9 m o s a i c i s m does not. Thus, there is no established c o m m o n denominator. F u r t h e r case r e p o r t s m a y eventually delineate a clear clinical picture o f trisomy 9 mosaicism. Acknowledgement. We thank Dr. I. P. McIntyre for providing the clinical notes on C.B.
References Bowen, P., Ying, K. L., Chung, G. H. S.: Trisomy 9 mosaicism in a newborn infant with multiple malformations. J. Pediat. 85, 95--97 (1974) Crossen, P. E.: Giemsa banding patterns of human chromosomes. Clin. Genet. 3, 169--179 (1972) Djernes, B. W., Sookup, S. W., Bove, K. E., Wong, K. Y.: Congenital leukemia associated with mosaic trisomy 9. J. Pediat. 38, 596--597 (1976) Feingold, M., Atkins, L.: A case of trisomy 9. J. Med. Genet. 10, 184--187 (1973) Haslam, R. H. A., Broske, S. P., Moore, C. M., Thomas, G. H., Neill, C.: Trisomy 9 mosaics with multiple congenital anomalies. J. Med. Genet. 10, 180--184 (1973) Knight, L. A., Davidson, W. M., Cuddigan, B. J.: Letter:Acquired trisomy 9. Lancet 19741, 688 Moorhead, P. S., Nowell, P. C., Mellmann, W. J., Battips, D. M., Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res. 20, 613--616 (1960) Neu, R. L., Bargman, G. J., Gardner, L. I.: Disappearance ofa 47,XX,C+ leucocyte cell line in an infant who had previously exhibited 46,XX/47,XXC+ mosaicism. Pediat. 43, 623--626 (1969) Porter, I. H., Brown, C. D., Gergosian, L. A., Paul, B. A.: Evidence of selection in mosaicism. J. Med. Genet. 6, 310--313 (1969) Richards, B. W.: Mosaic mongolism. J. Ment. Defic. Res. 13, 66--83 (1969) Schinzel, A., Hayashi, K., Schmid, W.: Mosaic trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik 25, 171--177 (1974) Summer, A. T., Evans, H. J., Buckland, R. A.: A new technique for distinguishing between human chromosomes. Nature New Biol. 232, 31--32 (1971) Taylor, A. I.: Cell selection in vivo in normal/G trisomic mosaics. Nature 219, 1028--1030 (1968) Tuncbilek, E., Halicioglu, C., Say, B.: Trisomy 8 syndrome. Humangenetik 23, 23--29 (1974) Received November 18, 1976 / March 15, 1977 Note Added in Proof After this paper was submitted, two further cases of trisomy 9 were reported (Seabright, M., Gregson, N. and Mould, S.: Trisomy 9 associated with an enlarged 9qh segment in a liverborn. Hum. Genet. 34, 323--325 (1976); Sutherland, G. R., Carter, R. F. and Morris, L. L.: Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome. Hum. Genet. 32, 133--140 (1976)). Both patients exhibited a facial dysmorphia very similar to the description in this report, and both had congenital heart defects.
