J Genet Med.  2014 Jun;11(1):16-21. 10.5734/JGM.2014.11.1.16.

Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

  • 1Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea. chadh001@chamc.co.kr
  • 2Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, Korea.


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.


Prenatal diagnosis; X chromosome; Xq;Yq translocation
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