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KMID : 1189120140110010016
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대한의학유전학회지
2014 Volume.11 No. 1 p.16 ~ p.21
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Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus
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Park Sang-Hee
Shim Sung-Han
Jung Yong-Wook
Kim Da-Hee
Kang Su-Jin
Park Sun-Ok
Cha Dong-Hyun
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Abstract
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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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KEYWORD
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Prenatal diagnosis, X chromosome, Xq:Yq translocation
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