FAMILIAL TRANSLOCATION RESULTING IN WOLF-HIRSCHHORN-SYNDROME IN 2 RELATED UNBALANCED INDIVIDUALS - CLINICAL-EVALUATION OF A 39-YEAR-OLD MAN WITH WOLF-HIRSCHHORN-SYNDROME

被引：17

作者：

WHEELER, PG ^{[1
]}

WEAVER, DD ^{[1
]}

PALMER, CG ^{[1
]}

机构：

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

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 55卷 / 04期

关键词：

MENTAL RETARDATION; GREAT-UNCLE; CHROMOSOME ANALYSIS;

D O I：

10.1002/ajmg.1320550414

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf-Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf-Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,-4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great-uncle who also had a similar phenotype and profound mental retardation, Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39-year-old great-uncle is the oldest reported individual with the Wolf-Hirschhorn syndrome, The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized. (C) 1995 Wiley-Liss, Inc.

引用

页码：462 / 465

页数：4