伊藤色素减退症——体细胞镶嵌现象的非特异性标志物：18三体镶嵌现象病例报告
Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.
作者信息
Chitayat D, Friedman J M, Johnston M M
机构信息
Department of Medical Genetics, University Hospital Shaughnessy Site, University of British Columbia, Vancouver, Canada.
出版信息
Am J Med Genet. 1990 Mar;35(3):422-4. doi: 10.1002/ajmg.1320350320.
PMID:2309792
Abstract
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.
摘要
我们报告了一名患有伊藤色素减退症（HI）、发育迟缓、反复肺炎和面部不对称的患者。对血液和三块皮肤活检组织中的一块进行的染色体分析显示为18三体镶嵌现象。这是关于HI与18三体镶嵌现象相关的首例报告。这种神经外胚层疾病似乎是染色体镶嵌现象的一种非特异性表现。
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