DELETION MAPPING OF A RETINAL CONE-ROD DYSTROPHY - ASSIGNMENT TO 18Q211

被引：47

作者：

WARBURG, M

SJO, O

TRANEBJAERG, L

FLEDELIUS, HC

机构：

[1] JOHN F KENNEDY INST,DEPT MED GENET,GLOSTRUP,DENMARK

[2] HILLEROD HOSP,DEPT OPHTHALMOL,HILLEROD,DENMARK

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 03期

关键词：

RETINITIS PIGMENTOSA; CHROMOSOMAL ABERRATION; TAPETORETINAL DYSTROPHY; MENTAL RETARDATION; HYPOGONADISM; HEARING IMPAIRMENT;

D O I：

10.1002/ajmg.1320390309

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Deletion of 18q211 was observed in a mentally retarded young man with electrophysiologically demonstrated cone-rod dystrophy, present since childhood. He had hypogonadism and a central postsynaptic hearing impairment. This is the first case of a chromosome deletion in a patient with a cone-rod dystrophy. Three patients with more distal deletions on chromosome 18 did not present retinal dystrophies. We suggest that one of the loci for cone-rod dystrophy may be located on chromosome 18 at q211-213. Reports of similar findings will be necessary for confirmation of this assumption.

引用

页码：288 / 293

页数：6

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