PARTIAL DELETION OF CHROMOSOME-6P - DELINEATION OF THE SYNDROME

被引：41

作者：

PALMER, CG

BADER, P

SLOVAK, ML

COMINGS, DE

PETTENATI, MJ

机构：

[1] CITY HOPE NATL MED CTR,DUARTE,CA 91010

[2] WAKE FOREST UNIV,BOWMAN GRAY SCH MED,WINSTON SALEM,NC 27103

[3] PARKVIEW MEM HOSP,FT WAYNE,IN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 02期

关键词：

CHROMOSOME DELETION; DELETION-6P; CLINICAL FINDINGS; PARTIAL MONOSOMY-6P; M; MULTIPLE CONGENITAL ANOMALIES/MENTAL RETARDATION (MCA/MR) SYNDROME;

D O I：

10.1002/ajmg.1320390208

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Here we summarize the clinical findings of five new patients and nine patients reported in the literature with deletions of the short arm of chromosome 6. The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.

引用

页码：155 / 160

页数：6

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