产前纯合性定位在一名患有骨骼发育不良和关节脱位的胎儿中检测到CHST3基因的一个新突变。
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.
作者信息
Muys Joke, Blaumeiser Bettina, Jacquemyn Yves, Janssens Katrien
机构信息
University Hospital Antwerp Edegem Belgium.
University of Antwerp Edegem Belgium.
出版信息
Clin Case Rep. 2017 Mar 1;5(4):440-445. doi: 10.1002/ccr3.800. eCollection 2017 Apr.
Abstract
In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families.
摘要
在某些特定情况下，在产前进行纯合性定位，随后对一个或几个精心挑选的候选基因进行直接测序，这对于在近亲家庭中获得诊断可能是有益的。
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