Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report.
We report a male child born with complete absence of his external ear, hemifacial microsomia of the right side, high arched palate, a down-turned upper lip and slightly up-slanting palpebral fissures. The features were suggestive of facio-auriculo-vertebral spectrum. Investigations showed a tandem duplication of the short arm of one chromosome 10 with apparent breakpoints at p14 and p15. This case extends the list of chromosomal abnormalities associated with the facio-auriculo-vertebral phenotype and also adds useful clinical information to possible trisomy 10p phenotypes.
Dabir
Tabib A
TA
Clinical Genetics department, Belfast City Hospital, Belfast.
Morrison
Patrick J
PJ
D002648:Child; D019457:Chromosome Breakage / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000378:metabolism* / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D014314:Trisomy / Q000235:genetics*