Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism

被引：10

作者：

Taban, Mehryar

Marcotty, Andreas

Traboulsi, Elias I.

机构：

[1] Cleveland Clin Fdn, Cole Eye Inst, Dept Pediat Ophthalmol, Cleveland, OH 44195 USA

[2] Cleveland Clin Fdn, Cole Eye Inst, Ctr Genet Eye Dis, Cleveland, OH 44195 USA

来源：

OPHTHALMIC GENETICS | 2006年 / 27卷 / 03期

关键词：

constitutional partial trisomy 8 mosaicism; trisomy; 8; coloboma; chorioretinal defects;

D O I：

10.1080/13816810600862543

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These congenital anomalies have not been previously reported in association with constitutional partial trisomy 8 mosaicism.

引用

页码：103 / 105

页数：3

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