DUANES RETRACTION SYNDROME-ASSOCIATED WITH CHROMOSOME 4Q27-31 SEGMENT DELETION

被引：26

作者：

CHEW, CKS

FOSTER, P

HURST, JA

SALMON, JF

机构：

[1] RADCLIFFE INFIRM,OXFORD EYE HOSP,NHS TRUST,DEPT OPHTHALMOL,OXFORD OX2 6HE,ENGLAND

[2] RADCLIFFE INFIRM,GENET CLIN,OXFORD,ENGLAND

[3] OXFORD RADCLIFFE NATL HLTH SERV TRUST,OXFORD,ENGLAND

来源：

AMERICAN JOURNAL OF OPHTHALMOLOGY | 1995年 / 119卷 / 06期

关键词：

D O I：

10.1016/S0002-9394(14)72795-3

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

PURPOSE/METHOD: A 15-year-old boy with bilateral blepharoptosis, bilateral type 1 Duane's retraction syndrome, and mild learning difficult-ies underwent chromosomal analysis. RESULTS/CONCLUSIONS: A de novo deletion of a segment of the long arm of chromosome 4 (4q27-31) was found. To our knowledge, no other individuals with this chromosome deletion have Duane's retraction syndrome. The chromosome defect lies close to the epidermal growth factor gene, 4q25, which was recently linked to Rieger's syndrome. We suggest that families with Duane's retraction syndrome should be assessed for linkage to the area of 4q27-31.

引用

页码：807 / 809

页数：3

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