De novo structure variations of the Y chromosome in a 47,XXY female with ovarian failure: a case report.
Cytogenet Genome Res
; 143(4): 221-4, 2014.
Article
en En
| MEDLINE
| ID: mdl-25227289
ABSTRACT
We report on a patient with a 47,XXY karyotype who presents a normal female phenotype, which is an extremely rare observation worldwide. The patient is infertile. Type B ultrasound scans and other tests suggested that her ovaries had completely failed. Microsatellite DNA marker analysis revealed that the 2 X chromosomes were derived from her mother and that this abnormality was caused by non-disjunction of the maternal X chromosomes during meiosis II. Copy number variation analysis identified 2 large de novo deletions in her Y chromosome. Remarkably, one of the deleted regions includes the SRY gene locus, which might explain her female phenotype. However, the genetic mechanism of her ovarian failure remains unclear. This paper is the first report of a 47,XXY female with ovarian failure.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Insuficiencia Ovárica Primaria
/
Síndrome de Klinefelter
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
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Female
/
Humans
Idioma:
En
Revista:
Cytogenet Genome Res
Asunto de la revista:
GENETICA
Año:
2014
Tipo del documento:
Article