A trisomy of the distal long arm of chromosome 15 (q21→qter) resulting in similar phenotypic and developmental abnormalities in two related children (a boy and a girl) is described. The chromosome defect was due to malsegregation of a balanced translocation (5;15)(p14;q21) in one of the parents. It was inherited in four generations and accompanied by recurrent miscarriages. Comparison of these patients with four previously published cases of trisomy 15q dist reveals a pattern of common features including: microdolichocephaly with characteristic strikingly protuberant occiput and predominance of the visceral over the cerebral cranium; peculiar facial dysmorphism—narrow antimongoloid palpebral fissures; large, malformed, low-set ears; micrognathy; long philtrum; short neck; cardiopathy; profound encephalopathy with lack of suck and swallow reflexes; and no growth retardation.
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Tzancheva, M., Krachounova, M. & Damjanova, Z. Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21). Hum Genet 56, 275–277 (1981). https://doi.org/10.1007/BF00274678
- Internal Medicine
- Metabolic Disease
- Growth Retardation
- Familial Case
- Developmental Abnormality