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[3号染色体遗传性臂内倒位]

[Hereditary paracentric inversion of chromosome 3].

作者信息

Neetens A, Dumon J, Van Roy B

出版信息

Ophtalmologie. 1989 Jan-Mar;3(1):69-72.

PMID:2641076
Abstract

A complete uveal dysgenesis with absence of the anterior chamber and fixed mydriatic pupil was observed in the left eye of a boy. His younger sister and his father, and also the right eye of the patient showed similar but more discrete anterior uveal alterations. All three persons present some facial peculiarities. They are also heterozygous for a paracentric inversion of the short arm of chromosome 3. Four other cases with this chromosomal aberration were found in the literature, none with eye anomalies.

摘要

在一名男孩的左眼观察到完全性葡萄膜发育异常,无前房且瞳孔固定散大。他的妹妹、父亲以及该患者的右眼也表现出类似但更不明显的前部葡萄膜改变。这三人都有一些面部特征。他们在3号染色体短臂的臂间倒位方面也是杂合子。文献中还发现了另外4例有这种染色体畸变的病例,但均无眼部异常。

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Paracentric inversion of chromosome 19 in three generations.
Am J Med Genet. 1989 Dec;34(4):525-7. doi: 10.1002/ajmg.1320340414.

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