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KMID : 1189120160130020095
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대한의학유전학회지
2016 Volume.13 No. 2 p.95 ~ p.98
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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
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Lee Dong-Sook
Park Hee-Ju
Kwak San-Ha
Lee Soo-Min
Go Sang-Hee
Jo Su-Kyung
Kim Ki-Chul
Lee Seung-Gwan
Hwang Do-Yeong
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Abstract
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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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KEYWORD
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Prenatal diagnosis, der(15)t(Y, 15)(q12, p11), Sex chromosome aberrations, Fluorescence in situ hybridization, Quantitative fluorescent PCR
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