Journal of Genetic Medicine

  • 제13권2호
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  • Pages.95-98
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  • 2016
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

  • Lee, Dongsook (Research Center of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Park, Heeju (Research Center of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Kwak, Sanha (Research Center of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Lee, Soomin (Research Center of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Go, Sanghee (Research Center of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Park, Sohyun (Research Center of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Jo, Sukyung (Research Center of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Kim, Kichul (Research Center of Fertility & Genetics, Hamchoon Women's Clinic) ;
  • Lee, Seunggwan (Department of Health and Environmental Science, Korea University) ;
  • Hwang, Doyeong (Research Center of Fertility & Genetics, Hamchoon Women's Clinic)
  • 투고 : 2016.11.16
  • 심사 : 2016.12.04
  • 발행 : 2016.12.31
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초록

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

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참고문헌

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