Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal.
Genet Mol Res
; 9(3): 1815-23, 2010 Sep 14.
Article
em En
| MEDLINE
| ID: mdl-20845307
ABSTRACT
Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The case reported here is the rare form with a t(Xp;Yp). The combination of conventional clinical cytogenetic techniques, microsatellite analysis and high-density microarrays identified the X-chromosome breakpoint as centromeric of the NR0B1 gene and its control elements. Cytogenetics and array technology complemented each other in characterizing the translocation event and the extent of the dosage-sensitive sex reversal critical region on the derivative Y-chromosome. The implications of this analysis also lie in genetic counseling that highlight the likely de novo nature of a paternal meiotic event.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Desenvolvimento Sexual
/
Cromossomos Humanos X
/
Cromossomos Humanos Y
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Genet Mol Res
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Nova Zelândia