Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus.
- Author:
Dongsook LEE
1
;
Heeju PARK
;
Sanha KWAK
;
Soomin LEE
;
Sanghee GO
;
Sohyun PARK
;
Sukyung JO
;
Kichul KIM
;
Seunggwan LEE
;
Doyeong HWANG
Author Information
- Publication Type:Case Report
- Keywords: Prenatal diagnosis; der(15)t(Y; 15)(q12; p11); Sex chromosome aberrations; Fluorescence in situ hybridization; Quantitative fluorescent PCR
- MeSH: Chromosomes, Human, Pair 15*; Cytogenetic Analysis; Cytogenetics; Fathers; Female*; Fetus*; Fluorescence; Genes, sry; Genetic Counseling; Grandparents; Humans; In Situ Hybridization; Karyotype; Mothers; Parents; Phenotype; Prenatal Diagnosis*; Sex Chromosome Aberrations; Siblings
- From:Journal of Genetic Medicine 2016;13(2):95-98
- CountryRepublic of Korea
- Language:English
- 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.
