CONGENITAL GLAUCOMA IN A CHILD WITH PARTIAL 1Q DUPLICATION AND 9P DELETION

被引：12

作者：

VERBRAAK, FD

POGANY, K

PILON, JW

MOOY, CM

DEFRANCE, HF

HENNEKAM, RCM

BLEEKERWAGEMAKERS, EM

机构：

[1] Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam

[2] Department of Paediatrics, Lelystad, Zuiderzee Ziekenhuis

[3] Department of Clinical Pathology, Erasmus University Rotterdam, Rotterdam

[4] Clinical Genetics Center Utrecht, Utrecht

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1992年 / 13卷 / 03期

关键词：

INFANTILE CONGENITAL GLAUCOMA; PARTIAL TRISOMY-1Q; PARTIAL MONOSOMY-9P;

D O I：

10.3109/13816819209046485

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

A case of partial duplication of chromosome 1 (1q41-qter) and partial deletion of chromosome 9 (9p24-pter) with infantile congenital glaucoma is reported. The histopathology of the eyes is described. The clinical findings ascribed to trisomy 1q and partial monosomy 9p are summarized and compared to this case. As this is the second report of a patient with monosomy 9p24-pter and congenital glaucoma, it may indicate localization of a gene involved in congenital glaucoma in this region of the human genome.

引用

页码：165 / 170

页数：6

共 14 条

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