| Chromosome analysis with high-resolution banding showed a small de novo interstitial deletion of chromosome 2(p21 p22.2) in an infant with holoprosencephaly. This is the first such observation. There is a well-known association with abnormalities of chromosome 13 (most commonly trisomy 13, but also dup(13q) and del(13q) and chromosome 18 (most often del(18p), but also trisomy 18). review of the literature also showed duplications of 3p and deletions of 7q to be causes of the holoprosencephaly defect. ( info) |
1552/2881. Deletion of the long arm of chromosome 4 [46,XX,del(4)(q31)] in a patient with congenital anomalies. A girl with congenital malformations and del 4(q31), identified by QFQ- and RFA- techniques, is described. The clinical findings are compared with the four cases of 4q- of the literature. Evident variability of the clinical features and the small number of cases of 4q- does not allow the delineation of a clinical syndrome. ( info) |
1553/2881. prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly. A fetus, subsequently shown to have the deletion 17p13, was detected at 30 weeks' gestation because of multiple anomalies and polyhydramnios on ultrasonography. The fetus died and was born at 34 weeks of gestation. Pathologic examination showed intrauterine growth retardation, double outlet right ventricle (a conotruncal cardiac defect), and thymic hypoplasia suggesting partial DiGeorge anomaly. To our knowledge, DiGeorge anomaly has not been reported previously in conjunction with del(17p) nor in the Miller-Dieker syndrome. Since this deletion is the largest deletion of distal 17p observed so far, one explanation for this association may be the presence of a gene on proximal 17p for neural crest development. ( info) |
1554/2881. Complex de novo rearrangement involving four chromosomes and ten break points with interstitial deletions and duplication. We describe an unusual de novo case of two interstitial deletions (5q22 5q31; 9q13 9p22) and one duplication (9q22 9p34) resulting from a 10-breakpoint, complex chromosome rearrangement of chromosomes 1, 5, 8, and 9 in a profoundly retarded woman. ( info) |
1555/2881. Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family. We present a family segregating for t(5;9)(p15.1;q34.13). Two cases with der(5),t(5;9), resulting in a partial duplication 9q34.13 qter and partial deletion of 5p15.12 pter, were ascertained. The phenotypes were consistent with features of both the cri du chat and trisomy 9q3 syndromes. ( info) |
1556/2881. Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. We reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty-one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32 qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31 qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q. ( info) |
1557/2881. A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. A patient with a proximal deletion of the long arm of chromosome 4 is presented. This patient and 6 others previously described appear to have similar findings of moderate to severe developmental delay, small size, small hands and feet, and similar facial appearance. These patients appear to be quite different from those with more distal 4q deletions. ( info) |
1558/2881. Eleven new cases of del(9p) and features from 80 cases. We report 11 cases of del(9p) and review 69 previously published ones. Of the 80 cases, 39 have a del(9p) as the sole anomaly. The symptoms are typical and diagnosis should be suspected at birth. The sex ratio does not appear to be unbalanced. A cardiac murmur is often present but surgery is rarely necessary. Mean IQ is 48. The number of reported cases with an associated trisomy has previously been underestimated. death in infancy, owing mainly to gross visceral malformations, occurs more often in cases of del(9p) with another unbalanced chromosome segment (16/41) than in cases of del(9p) as the sole anomaly (1/39). ( info) |
1559/2881. Another case of 9P-syndrome. This paper discusses the value of an International Repository of Chromosomal Abnormalities and Variants as a means of communication and case finding. A further case of 9p- is described. The clinical and cytogenetic findings confirm the existence of a clinical entity which in many respects is the opposite of the 9p trisomy syndrome. ( info) |
1560/2881. A case of partial 9p monosomy with some unusual clinical features. A patient is described with a karyotype 46,XX,del(9)(qter leads to p22:) and having the main clinical characteristics of pure monosomy for part of the short arm of chromosome No 9, among which craniosynostosis and trigonocephaly. She has also a few atypical features: a clearly advanced osseous maturation, marked congenital vertebral anomalies and unusual dermatoglyphics. ( info) |