18Q- AND 18Q+ MOSAICISM IN A MENTALLY-RETARDED BOY

被引：10

作者：

AUSEMS, MGEM

BHOLA, SL

POSTBLOK, CA

HENNEKAM, RCM

DEFRANCE, HF

机构：

[1] LORENTZ HOSP,DEPT PEDIAT,ZEIST,NETHERLANDS

[2] ACAD MED HOSP,INST HUMAN GENET,DEPT PEDIAT,AMSTERDAM,NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 53卷 / 03期

关键词：

ISOPSEUDODICENTRIC CHROMOSOME 18; 18Q-; SYNDROME; MOSAICISM; FISH;

D O I：

10.1002/ajmg.1320530317

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome, The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed. (C) 1994 Wiley-Liss, Inc.

引用

页码：296 / 299

页数：4

共 6 条

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