Monosomy 6q1: Syndrome delineation

被引：0

作者：

Romie, SS

Hartsfield, JK

Sutcliffe, MJ

Dumont, DP

Kousseff, BG

机构：

[1] INDIANA UNIV,SCH DENT,DEPT ORAL & FACIAL DEV,INDIANAPOLIS,IN 46202

[2] INDIANA UNIV,SCH MED,DEPT MED & MOLEC GENET,INDIANAPOLIS,IN 46202

[3] ALL CHILDRENS HOSP,DEPT PATHOL,ST PETERSBURG,RUSSIA

[4] UNIV S FLORIDA,DEPT PEDIAT,DIV GENET,TAMPA,FL 33612

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1996年 / 62卷 / 02期

关键词：

chromosome; 6; interstitial deletion; multiple congenital anomalies; mental retardation; gingival hypertrophy; dental fusion;

D O I：

10.1002/(SICI)1096-8628(19960315)62:2<105::AID-AJMG1>3.0.CO;2-V

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a girl with a de novo 6q1 interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-q15. We review the phenotype of monosomy 6q1. Our patient has manifestations similar to others with monosomy 6q1 including mental deficiency, growth retardation, short neck, and minor facial anomalies. (C) 1996 Wiley-Liss, Inc.

引用

页码：105 / 108

页数：4

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