Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
Journal of Genetic Medicine
;
: 95-98, 2016.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pais
/
Fenótipo
/
Diagnóstico Pré-Natal
/
Aberrações dos Cromossomos Sexuais
/
Cromossomos Humanos Par 15
/
Hibridização In Situ
/
Análise Citogenética
/
Citogenética
/
Genes sry
/
Irmãos
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2016
Tipo de documento:
Artigo
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