Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report

被引：17

作者：

Dabir, TA ^{[1
]}

Morrison, PJ ^{[1
]}

机构：

[1] Belfast City Hosp, Dept Clin Genet, Belfast BT9 7AB, Antrim, North Ireland

来源：

CLINICAL DYSMORPHOLOGY | 2006年 / 15卷 / 01期

关键词：

facial asymmetry; hypoplastic mandible; absent ears; preauricular tags; high arched palate; palpebral fissures slant up;

D O I：

10.1097/01.mcd.0000181606.63005.50

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 upslanting 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.

引用

页码：25 / 27

页数：3

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