使用寡核苷酸阵列比较基因组杂交技术对罕见的新发1q22-q25.1染色体缺失综合征进行产前诊断。
Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH.
作者信息
Shariati Gholamreza, Saberi Alihossein, Hamid Mohammad, Galehdari Hamid, Sedaghat Alireza, Abdorasuli Nehzat
机构信息
Department of Medical Genetics Faculty of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.
Narges Genetics Lab. Ahvaz Iran.
出版信息
Clin Case Rep. 2018 Jun 13;6(8):1464-1469. doi: 10.1002/ccr3.1604. eCollection 2018 Aug.
Abstract
We present prenatal diagnosis of a case with a rare de novo interstitial deletion of 1q21-q25.1 by oligo array CGH and provide detailed information on unbalanced gene content and the breakpoints. The affected fetus was delivered at 37 weeks' gestation with a unique clinical phenotype.
摘要
我们通过寡核苷酸阵列比较基因组杂交技术对一例罕见的1q21-q25.1间质性从头缺失病例进行了产前诊断，并提供了关于基因含量不平衡和断点的详细信息。受影响的胎儿在妊娠37周时分娩，具有独特的临床表型。
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