Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3).
Am J Med Genet A
; 152A(5): 1305-9, 2010 May.
Article
en En
| MEDLINE
| ID: mdl-20425841
ABSTRACT
We report on an adolescent girl with premature ovarian failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array-CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen + progesterone therapy. Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Hueso Púbico
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Translocación Genética
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Cromosomas Humanos Par 15
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Insuficiencia Ovárica Primaria
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Cromosomas Humanos X
/
Cabello
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Italia