Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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Case of Prenatally Diagnosed, 3 Successive Familial Partial Trisomy 4p nd 4/22 Translocation of Maternal Origin

산전 유전 검사로 진단된 3회 연속적인 모계 기원의 가족성 partial trisomy 4p와 4/22 전좌 이상(translocation) 예

  • Yang, Y.H. (Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University) ;
  • Kim, G.S. (Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University) ;
  • Kim, S.K. (Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University) ;
  • Kim, I.K. (Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University) ;
  • Min, H.W. (Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University) ;
  • Song, C.H. (Departmant of Obstetrics and Gynecology, College of Medicine, Yonsei University)
  • 양영호 (연세대학교 의과대학 산부인과학교실) ;
  • 김경수 (연세대학교 의과대학 산부인과학교실) ;
  • 김세광 (연세대학교 의과대학 산부인과학교실) ;
  • 김인규 (연세대학교 의과대학 산부인과학교실) ;
  • 민혜원 (연세대학교 의과대학 산부인과학교실) ;
  • 송찬호 (연세대학교 의과대학 산부인과학교실)
  • Published : 1994.04.30
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Abstract

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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