Array Comparative Genomic Hybridization을 이용한 남성 태아 der(X)t(X;Y)(p22.31;q11.22)의 산전 진단
Prenatal Diagnosis of der(X)t(X;Y)(p22.31;q11.22) in a Male Fetus by Using Array Comparative Genomic Hybridization
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초록
X염색체 단완과 Y염색체 장완 사이의 전좌는 드물게 관찰되며, Xp/Yq 전좌를 가진 남성은 결실된 Xp의 범위에 따라 다양한임상증상을 나타낸다. 임신 16주에 시행한 산전 염색체검사에서der(X)t(X;Y)(p22.31;q11.22)가 검출된 남자 태아를 보고하고자 한다. 태아의 비정상 염색체는 산모로부터 유래하였고, array CGH분석에서 STS와 KAL1 유전자의 사이에 절단점을 가진 Xp22.31-pter의 nullisomy임을 알 수 있었다. X염색체의 결실 부위에는 반성어린선, 정신지체, 점상연골형성장애, 안면기형, 저신장의 원인 유전자인 STS, NLGN4, ARSE, CSF2RA, SHOX 등이 존재한다. 태아의산전 초음파 소견과 부검 결과 Xp22.31-pter 결실과 연관된 표현형이 관찰되었고, 보인자인 산모에 대한 유전상담이 실시되었다. 새로운 분자유전학적 진단기법은 산전진단에 있어 염색체이상에 관한 보다 정확한 유전체 정보를 제공하는데 도움이 된다.
Abstract
Xp/Yq translocations are rare chromosomal rearrangements, and the phe-notype of male carriers varies according to the segment of the Xp region that is deleted. In this case report, we describe a der(X)t(X;Y)(p22.31;q11.22) translocation, detected by conventional cytogenetic analysis, in male fetus at a gestational age of 16 weeks. Chromosomal analysis of parental blood confirmed that this chromosomal aberration had been maternally inherited. Array comparative genomic hybridization (CGH) analysis of fetal blood further indicated a nullisomy of Xp22.31-pter and a breakpoint between the STS and KAL1 genes. The STS, NLGN4, ARSE, CSF2RA, and SHOX genes are present in the region that was deleted, and are known to be related to conditions such as X-linked ichthyosis, chondrodysplasia punctata, mental retardation, and facial dysmorphism in humans. Prenatal ultrasonographic findings and autopsy results were consistent with Xp22.31-pter deletion phenotypes. Genetic counseling was provided for the mother. The observations from this case study indicate that advanced molecular techniques can provide a more precise prenatal diagnosis of chromosomal anomalies than conventional cytogenetics can.
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