荧光原位杂交确认22号染色体三体。
Trisomy 22 confirmed by fluorescent in situ hybridization.
作者信息
Stratton R F, DuPont B R, Mattern V L, Young R S, McCourt J W, Moore C M
机构信息
Department of Pediatrics, University of Texas Health Science Center, San Antonio 78229.
出版信息
Am J Med Genet. 1993 Apr 1;46(1):109-12. doi: 10.1002/ajmg.1320460119.
PMID:8494030
Abstract
We report on a newborn girl with multiple congenital anomalies, whose G-banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.
摘要
我们报告了一名患有多种先天性异常的新生女婴，其G显带染色体分析显示22号染色体完全三体。使用针对22号染色体的全染色体涂染探针进行染色体涂染，证实两条22号染色体均未参与隐匿性易位。
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