Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure | Zendy

G. Tachdjian | Zendy; Azzedine Aboura | Zendy; M F Portnoï | Zendy; Maud Pasquier | Zendy; Nathalie Bourcigaux | Zendy; Tabassome Simon | Zendy; Guillaume Rousseau | Zendy; L.J. FINKEL | Zendy; Moncef Benkhalifa | Zendy; Sophie ChristinMaître | Zendy

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Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure

Author(s) -

G. Tachdjian,

Azzedine Aboura,

M F Portnoï,

Maud Pasquier,

Nathalie Bourcigaux,

Tabassome Simon,

Guillaume Rousseau,

L.J. FINKEL,

Moncef Benkhalifa,

Sophie ChristinMaître

Publication year - 2007

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/dem358

Subject(s) - comparative genomic hybridization , gene duplication , premature ovarian failure , biology , microarray , x chromosome , genetics , autosome , fluorescence in situ hybridization , cytogenetics , microarray analysis techniques , copy number variation , chromosome , microbiology and biotechnology , gene , genome , gene expression , endocrinology

Premature ovarian failure (POF) is defined as amenorrhoea for >6 months, occurring before the age of 40, with an FSH serum level in the menopausal range. Although Xq deletions have been known for a long time to be associated with POF, the mechanisms involved in X deletions in order to explain ovarian failure remain unknown. In order to look for potentially cryptic chromosomal imbalance, we used high-resolution genomic analysis to characterize X chromosome deletions associated with POF.

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