Journal of Genetic Medicine

  • 제11권1호
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  • Pages.16-21
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  • 2014
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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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Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

  • Park, Sang Hee (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Shim, Sung Han (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Jung, Yong Wook (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Kim, Da Hee (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Kang, Su Jin (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Park, Sun Ok (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University) ;
  • Cha, Dong Hyun (Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University)
  • 투고 : 2014.05.14
  • 심사 : 2014.06.13
  • 발행 : 2014.06.30
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초록

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.

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참고문헌

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