SYNDROME OF PROXIMAL INTERSTITIAL DELETION 4P15 - REPORT OF 3 CASES AND REVIEW OF THE LITERATURE

被引：30

作者：

CHITAYAT, D

RUVALCABA, RHA

BABUL, R

TESHIMA, IE

POSNICK, JC

VEKEMANS, MJJ

SCARPELLI, H

THULINE, H

机构：

[1] UNIV TORONTO,TORONTO HOSP,PRENATAL DIAGNOSIS PROGRAM,TORONTO,ON M5G 1L7,CANADA

[2] MCGILL UNIV,MONTREAL CHILDRENS HOSP,MONTREAL,PQ H3H 1P3,CANADA

[3] UNIV WASHINGTON,DIV ENDOCRINOL,SEATTLE,WA 98195

[4] GENET SERV SECT,SEATTLE,WA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 55卷 / 02期

关键词：

WOLF-HIRSCHHORN SYNDROME; CHROMOSOME ABNORMALITIES; CHROMOSOME DELETION; CHROMOSOME; 4; SHORT ARM; INTERSTITIAL DELETION; GENITALIA; MENTAL RETARDATION; SCOLIOSIS; CONNECTIVE TISSUE DISORDER;

D O I：

10.1002/ajmg.1320550203

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf-Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome. (C) 1995 Wiley-Liss, Inc.

引用

页码：147 / 154

页数：8

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