산전 진단된 비15, 비22 marker 염색체 1예
A case of prenatally diagnosed Non-15, Non-22 marker chromosome
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초록
임신중기에 시행하는 양수천자검사는 산전 유전적 진단 및 상담에서 중요한 수단이다. 배양된 양수세포의 중기 염색체 분석을 통해 핵형을 알 수 있다. Marker 염색체는 미지의 구조적 비정상 염색체이며 과거 보고에 의하면 그 발생율은 0.6-1.5/1000이다. Marker 염색체는 고령 산모에서 더욱 많이 발생한다. Marker 염색체는 기형과 발달 장애 등과 관련이 있으므로 그 기원을 확인하는 것이 중요하다. 최근 Marker 염색체의 기원 및 성상의 확진이 Fluorescent In Situ Hybridization (FISH)로 가능해졌다. 대부분의 Marker 염색체는 15, 22, X, Y 염색체에서 기원한다. 저자들은 양수검사와 FISH로 산전에 진단된 비15, 비22 marker 염색체를 경험하였기에 간단한 문헌 고찰과 함께 보고하는 바이다.
Abstract
Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal genetic diagnosis and counseling. We can identify karyotypes with metaphase chromosome analysis of cultured amniocytes. Marker chromosomes are defined as unidentified structurally abnormal chromosomes. Incidence of marker chromosomes in the previous reported studies was 0.6-1.5/1,000. They occurred more frequently with advanced maternal age. Ascertainment of chromosomal origin is important because it may be associated with malformation and developmental abnormalities. Recently, identification of the origin and composition of marker chromosomes has been made possible by the use of fluorescent in situ hybridization (FISH). Most marker chromosomes are known to be originated from chromosome 15 or 22, X, Y. We have experienced a case of non-15, non-22 marker chromosome prenatally detected in amniocentesis and FISH, so we reported it with a brief review of literature.
참고문헌 (15)
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