CHROMOSOME-6Q DELETIONS - A REPORT OF 2 ADDITIONAL CASES AND A REVIEW OF THE LITERATURE

被引：56

作者：

MCLEOD, DR

FOWLOW, SB

ROBERTSON, A

SAMCOE, D

BURGESS, I

HOO, JJ

机构：

[1] UNIV CALGARY,FAC MED,DEPT PAEDIAT,CALGARY T2N 1N4,ALBERTA,CANADA

[2] UNIV CALGARY,FAC MED,DIV MED GENET,CALGARY T2N 1N4,ALBERTA,CANADA

[3] UNIV ILLINOIS,SCH MED,DEPT PEDIAT,CHICAGO,IL 60680

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 01期

关键词：

Imperforate anus; Mouse T/t locus; Retinal abnormalities; Sacral abnormality; Skin hyperextensibility;

D O I：

10.1002/ajmg.1320350115

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Here we report on two additional cases of distal 6q deletions with one case showing a terminal deletion of chromosome 6 (46,XY,del(6)(pter→q26:)) and one case showing an interstitial deletion of chromosome 6 (46,XY,del(6)(pter→q23::q25→qter)). The association of retinal abnormalities in 6q deletions is supported, and the additional manifestations of skin hyperextensibility, sacral abnormality, and imperforate anus are described.

引用

页码：79 / 84

页数：6

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