Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus
Journal of Genetic Medicine
;
: 95-98, 2016.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Padres
/
Fenotipo
/
Diagnóstico Prenatal
/
Aberraciones Cromosómicas Sexuales
/
Cromosomas Humanos Par 15
/
Hibridación in Situ
/
Análisis Citogenético
/
Citogenética
/
Genes sry
/
Hermanos
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2016
Tipo del documento:
Artículo
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