Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus
Journal of Genetic Medicine
; : 16-21, 2014.
Article
de En
| WPRIM
| ID: wpr-7133
Bibliothèque responsable:
WPRO
ABSTRACT
A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Parents
/
Diagnostic prénatal
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Jumeaux
/
Chromosome X
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Chromosome Y
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Prélèvement de villosités choriales
/
Hybridation in situ
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Analyse cytogénétique
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Mesure de la clarté nucale
/
Inactivation du chromosome X
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
Limites du sujet:
Adult
/
Female
/
Humans
/
Pregnancy
langue:
En
Texte intégral:
Journal of Genetic Medicine
Année:
2014
Type:
Article