15号染色体q24.3 - 25.2区域的微缺失与口面部裂隙
Microdeletion of chromosome 15q24.3-25.2 and orofacial clefting.
作者信息
Sing Bindya, Song Dongli, DeSandre Glenn, Govindaswami Balaji, Rosenthal Scott, Gunn Shelly, Wallerstein Robert
出版信息
Cleft Palate Craniofac J. 2011 Sep;48(5):596-600. doi: 10.1597/09-077. Epub 2010 Jun 2.
DOI:10.1597/09-077
PMID:20518684
Abstract
We report a case of de novo microdeletion of 15q24.3-q25.2 in an infant with orofacial cleft and general hypotonia and suggest that this may be a critical region in orofacial development. In addition, this case highlights the usefulness of comparative genomic microarray in the evaluation of children with congenital anomalies with such defects.
摘要
我们报告了一例患有口面部裂隙和全身肌张力减退的婴儿发生15q24.3 - q25.2新发微缺失的病例，并提示这可能是口面部发育中的一个关键区域。此外，该病例凸显了比较基因组微阵列在评估患有此类先天性异常缺陷儿童中的作用。
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