Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4)

被引：0
作者：
Fujimoto, A
Reddy, KS
Spinks, R
机构：
[1] Univ So Calif, Los Angeles Cty Med Ctr, Div Genet, Dept Pediat, Los Angeles, CA 90033 USA
[2] Univ So Calif, Sch Med, Los Angeles, CA USA
[3] Quest Diagnost, San Juan Capistrano, CA USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1998年 / 75卷 / 01期
关键词：
chromosome; 4; interstitial deletion; 4q12q21; piebald trait; 4q deletion; maternal insertion;
D O I：
10.1002/(SICI)1096-8628(19980106)75:1<78::AID-AJMG16>3.0.CO;2-P
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A 17-year-old boy who was diagnosed with "Waardenburg syndrome" showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a chromosome 8. The rearrangement was confirmed to be nonreciprocal and an insertion by in situ hybridization using whole chromosome 4 and 8 painting probes. The mother's karyotype is 46,XX,ins(8;4) (q21,2; q12q21.1); that of the propositus is 46,XY, der(4)ins(8;4) (q21.2;q12q21.1)mat. This is the first report of an inherited proximal 4q deletion, (C) 1998 Wiley-Liss, Inc.
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页码：78 / 81
页数：4
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