RIEGER SYNDROME WITH PERICENTRIC INVERSION OF CHROMOSOME-6

被引：19

作者：

HEINEMANN, MH

BREG, R

COTLIER, E

机构：

[1] YALE UNIV,SCH MED,DEPT OPHTHALMOL & VISUAL SCI,NEW HAVEN,CT 06510

[2] YALE UNIV,SCH MED,INST HUMAN GENET,NEW HAVEN,CT 06510

来源：

BRITISH JOURNAL OF OPHTHALMOLOGY | 1979年 / 63卷 / 01期

关键词：

D O I：

10.1136/bjo.63.1.40

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Pericentric inversion of chromosome 6 (6p+q-) was found in a girl with Rieger's syndrome and in her father. The only ocular signs in the father were prominent iris mounds and Schwalbe's line. The association of chromosomal anomalies with Rieger's syndrome indicates the need for a chromosome banding test in familial or sporadic patients with the syndrome and in patients with mild anomalies of the anterior chamber angle.

引用

页码：40 / 44

页数：5

共 27 条

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Alkemade P., 1969, DYSGENESIS MESODERMA

[2] OCULAR PATHOLOGY OF PATAUS SYNDROME WITH AN UNBALANCED D/D TRANSLOCATION [J].