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两名患有3号与18号染色体不平衡易位的姐妹患有前极性白内障。

Anterior polar cataract in two sisters with an unbalanced 3;18 chromosomal translocation.

作者信息

Rubin S E, Nelson L B, Pletcher B A

机构信息

Department of Ophthalmology, North Shore University Hospital, Manhasset, New York 11030.

出版信息

Am J Ophthalmol. 1994 Apr 15;117(4):512-5. doi: 10.1016/s0002-9394(14)70013-3.

Abstract

Congenital anterior polar cataracts can be associated with chromosomal abnormalities. We treated two sisters with this condition who had the same unbalanced translocation between the long arm of chromosome 3 and the short arm of chromosome 18. Their mother had a balanced translocation between those chromosomes but had no cataract. Both sisters had dysmorphic features. Their genetic status resulted in partial trisomy of the long arm of chromosome 3 and partial monosomy of the short arm of chromosome 18. To aid in the identification of specific cataract genes, patients with chromosomal abnormalities should have careful ophthalmic examinations, and their lenticular findings should be reported.

摘要

先天性前极性白内障可能与染色体异常有关。我们治疗了两名患有这种疾病的姐妹,她们在3号染色体长臂和18号染色体短臂之间存在相同的不平衡易位。她们的母亲在这些染色体之间有平衡易位,但没有白内障。两姐妹都有畸形特征。她们的基因状况导致3号染色体长臂部分三体性和18号染色体短臂部分单体性。为了有助于识别特定的白内障基因,患有染色体异常的患者应接受仔细的眼科检查,并报告其晶状体检查结果。

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