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대한생식의학회지 제21권 제1호 2010년
산전 유전 검사로 진단된 3회 연속적인 모계 기원의 가족성 partial trisomy 4p와 4/22 전좌 이상(translocation) 예
연세대학교 의과대학 산부인과학교실;연세대학교 의과대학 산부인과학교실;연세대학교 의과대학 산부인과학교실;연세대학교 의과대학 산부인과학교실;연세대학교 의과대학 산부인과학교실;연세대학교 의과대학 산부인과학교실;
양영호;김경수;김세광;김인규;민혜원;송찬호;,
Case of Prenatally Diagnosed, 3 Successive Familial Partial Trisomy 4p nd 4/22 Translocation of Maternal Origin
Yang, Y.H.;Kim, G.S.;Kim, S.K.;Kim, I.K.;Min, H.W.;Song, C.H.;
Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University;Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University;Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University;Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University;Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University;Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University;
A 27-year-old pregnant woman who had one son with mental and growh retardation and dysmorphic features, was referred for genetic counselling. Cytogenetic investigations revealed 4/22 translocation in the mother(46, XX, t(4;22)(p14;P11)), partial trisomy 4p in son(46, XY, -22, +der(22), t(4;22)(p14;p11)mat). The father had normal karyotype. Amniocentesis and chorionic villi sampling were performed in 3 successive pregnancies. The karyotypes of fetus in 3rd, 4th pregnancies by amniocentesis were 46, XX, t(4;22)(p14;p11) and 46, XX, t(4;22) (p14;p11), and the karyotype of fetus in 5th pregnancy by chorionic villi sampling was found to be 46, XX, -22, +der(22) t(4;22)(p14;p11)mat. We report 3 succesive prenatally diagnosed familial partial trisomy 4p and 4/22 translocation of maternal origin with review of literature.
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