Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
Journal of Genetic Medicine
;
: 95-98, 2016.
Article
in English
| WPRIM
| ID: wpr-213686
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parents
/
Phenotype
/
Prenatal Diagnosis
/
Sex Chromosome Aberrations
/
Chromosomes, Human, Pair 15
/
In Situ Hybridization
/
Cytogenetic Analysis
/
Cytogenetics
/
Genes, sry
/
Siblings
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2016
Type:
Article
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