Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21) |
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Authors: | M. Tzancheva M. Krachounova Zv. Damjanova |
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Affiliation: | (1) Department of Medical Genetics, Medical Academy, 8 Belo More Str, 1040 Sofia, Bulgaria;(2) Department of Pediatrics, 1st Pediatric Clinic, Medical Academy, 1, G. Sofijski Street, Bofia, Bulgaria |
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Abstract: | Summary A trisomy of the distal long arm of chromosome 15 (q21qter) 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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