HYPOMELANOSIS OF ITO - A NONSPECIFIC MARKER OF SOMATIC MOSAICISM - REPORT OF CASE WITH TRISOMY 18 MOSAICISM

被引：23

作者：

CHITAYAT, D

FRIEDMAN, JM

JOHNSTON, MM

机构：

[1] UNIV HOSP VANCOUVER,DEPT MED GENET,VANCOUVER,BC,CANADA

[2] UNIV BRITISH COLUMBIA,BRITISH COLUMBIA CHILDRENS HOSP,DIV DERMATOL,VANCOUVER V6T 1W5,BC,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 03期

关键词：

Migration defect; Neuroectoderm; Pigmentation; Skin;

D O I：

10.1002/ajmg.1320350320

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectodermal disorder appears to be a nonspecific manifestation of chromosome mosaicism.

引用

页码：422 / 424

页数：3

共 25 条

[1] HYPOMELANOSIS OF ITO - WOOD LIGHT AND MAGNETIC-RESONANCE-IMAGING AS DIAGNOSTIC MEASURES [J].