임신 제1삼분기에 진단된 배꼽탈장을 동반한 7번 세염색체증 모자이시즘
Prenatal diagnosis of trisomy 7 mosaicism with omphalocele in the first trimester of pregnancy
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초록
7번 세염색체증은 희귀한 염색체 질환으로 전체 세염색체증의 4%-10% 가량을 차지하며 거의 대부분의 증례가 모자이시즘(mosaicism)이다. 7번 염색체의 부분 세염색체증(partial trisomy) 및 완전형 세염색체증(full trisomy) 모자이시즘의 증례들에 관하여 보고된 바로는 얼굴 기형, 짧은 목, 발달 장애, 성장 지연, 신장 기형, 심장 기형, 다양한 양상의 골격 기형 등의 임상 양상을 보인다. 그 중에서도 완전형 7번 세염색체증의 증례는 매우 드물며 그 임상 양상이 잘 알려져 있지 않다. 최근 저자들은 임신 제1삼분기에 시행한 산전초음파에서 배꼽탈장을 보인 태아에서 융모막융모생검을 시행하여 고식적 염색체검사 및 bacterial artificial chromosome array comparative genomic hybridization 분석을 통해 완전형 7번 세염색체증의 모자이시즘으로 진단된 1예를 경험하였기에 이 증례를 간단한 문헌고찰과 함께 국내 최초로 보고하는 바이다.
Abstract
The trisomy 7 is rare autosomal aneuploidy worldwide, which accounts for 4%−10% of all trisomies, and most of the cases are mosaicism. The partial trisomy 7 mosaicism demonstrates facial deformities, short neck, hypotonia, developmental delay, severe growth retardation, renal anomalies, cardiac defect, skeletal anomalies with a wide range of characteristics and severities. The cases of full trisomy 7 are even rarer and the characteristics are not known well. Recently we have experienced a case of full trisomy 7 mosaicism with omphalocele, cleft palate, lower set of ears, single eye, scoliosis, upper limb deformity. It was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings at 12 weeks of gestation, using conventional karyotyping and bacterial artificial chromosome array comparative genomic hybridization. We report this case with brief review of literature.
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