Fluorescence in Situ Hybridization을 이용한 22q11.2 결손의 산전 진단
분야
의약학 > 기타(의약학)
저자
우미정 ( Mi Jung Woo ) , 최진선 ( Jin Sun Choi ) , 송남희 ( Nam Hee Song ) , 고희정 ( Hee Jung Ko ) , 오선경 ( Sun Kyung Oh ) , 천대우 ( Dea Woo Chun ) , 박찬욱 ( Chan Wook Park ) , 구승엽 ( Seung Yup Ku ) , 박교훈 ( Kyo Hoon Park ) , 박중신 ( Joong Shin Park ) , 전종관 ( Jong Kwan Jun )
발행기관
서울대학교 인구의학연구소
간행물정보
인구의학연구논집 2012년, 제25권 82~87페이지(총6페이지)
파일형식
0y500298.pdf [무료 PDF 뷰어 다운로드]
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    영문초록
    A mictodeletion of chromosome 22q 11.2, which is the most common human deletion syndrome, has a wide phenotypic spectrum that involves a congenital heart defect, cleft palate or thymic hypoplasia identified at ultrasound examnination, The cases of 22q 11.2 deletion occur as a de novo event or can be inherited as an autosomal dominant. Fluorescence In situ hybridization (FISH) was performed to detect the 22q 11.2 deletion in 64 amniotic fluid samples referred to the Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University. The abnormal ultrasonographic finding was the most common reason for referral. The 22ql1.2 microdeletion was detected in 4 cases among 64 cases, all presenting heart anomaly by the ultrasonographic finding. The 22ql1.2 FISH testing is a useful diagnosis method in pregnancies with heart anomaly and may also be helpful in genetic counseling.
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