与2q31染色体间质性缺失相关的眼部异常：病例报告及文献复习

Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review.

作者信息

Gambrelle Joël, Till Marianne, Lukusa Bibi, Beby Francis, Mory Nathalie, Sann Léon, Kodjikian Laurent, Grange Jean Daniel, Putet Guy

机构信息

Department of Ophthalmology, Croix-Rousse Hospital, Lyon, France.

出版信息

Ophthalmic Genet. 2007 Jun;28(2):105-9. doi: 10.1080/13816810701351305.

DOI:10.1080/13816810701351305

PMID:17558854

Abstract

We describe a newborn girl with multiple malformations associated with an interstitial deletion of chromosome 2q (q24q32). Clinical findings included growth retardation, microcephaly, facial malformations, common atrioventricular canal, digital anomalies of both hands and feet, and ovarian hypoplasia. Bilateral ocular anomalies included down-slanting palpebral fissures, blepharophimosis, microphthalmia, uveal coloboma, and corneal opacity. Chromosomal segment 2q31 may play a major role in the development of the eye and its adnexa.

摘要

我们描述了一名患有多种畸形的新生儿女孩，其与2号染色体（q24q32）的间质性缺失相关。临床发现包括生长发育迟缓、小头畸形、面部畸形、共同房室通道、双手和双足的手指异常以及卵巢发育不全。双侧眼部异常包括睑裂向下倾斜、睑裂狭小、小眼症、脉络膜缺损和角膜混浊。染色体片段2q31可能在眼及其附属器的发育中起主要作用。