J Genet Med.  2016 Dec;13(2):95-98. 10.5734/JGM.2016.13.2.95.

Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

Affiliations
  • 1Research Center of Fertility & Genetics, Hamchoon Women's Clinic, Seoul, Korea. doyhwang@hamchoon.com
  • 2Department of Health and Environmental Science, Korea University, Seoul, Korea.

Abstract

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.

Keyword

Prenatal diagnosis; der(15)t(Y;15)(q12;p11); Sex chromosome aberrations; Fluorescence in situ hybridization; Quantitative fluorescent PCR
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