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先天性青光眼及其他与11号染色体臂间倒位相关的眼部异常。

Congenital glaucoma and other ocular abnormalities associated with pericentric inversion of chromosome 11.

作者信息

Broughton W L, Rosenbaum K N, Beauchamp G R

出版信息

Arch Ophthalmol. 1983 Apr;101(4):594-7. doi: 10.1001/archopht.1983.01040010594013.

Abstract

Pericentric inversion of chromosome 11 occurred in consecutive generations of family members with congenital glaucoma. Affected persons were characterized by unilateral or bilateral congenital glaucoma, bilateral corneal disease, and a lack of appreciable dysmorphism. Previous reports of inversions of chromosome 11 are rare, and no ocular abnormalities have been noted. Chromosomal abnormalities may be the cause of some forms of congenital glaucoma and should be included in the genetic heterogeneity of this disease.

摘要

11号染色体的臂间倒位发生在患有先天性青光眼的连续几代家庭成员中。受影响者的特征为单侧或双侧先天性青光眼、双侧角膜疾病,且无明显的畸形。先前关于11号染色体倒位的报道很少,且未发现眼部异常。染色体异常可能是某些形式先天性青光眼的病因,应纳入该疾病的遗传异质性中。

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