An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature

Gene
Veronica BertiniAngelo Valetto

Abstract

We report on a 36-year-old infertile woman, presenting a premature ovarian failure with an otherwise normal female phenotype. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, that was characterized by FISH (fluorescent in situ hybridization) and array CGH (comparative genomic hybridization). This marker chromosome was derived from chromosome 15, and contained only heterochromatic material. The Prader Willi/Angelman region was not present. No duplications of the 15q regions were detected by array CGH. Supernumerary markers of chromosome 15 have been reported in cases of infertility and amenorrhea, that is also described in cases with marker derived by other acrocentric chromosomes. The case here presented constitutes a further example that etiology of POF is not always associated with a defective gene, but in some cases oocytes atresia can be the consequence of the abnormal meiotic pairing of chromosomes.

References

Aug 12, 2004·Cytogenetic and Genome Research·T LiehrH Starke
Oct 28, 2004·European Journal of Human Genetics : EJHG·John A CrollaPatricia A Jacobs
May 2, 2006·Current Opinion in Genetics & Development·Heather HallTerry Hassold
May 3, 2006·Current Opinion in Genetics & Development·Daniela Toniolo
May 26, 2009·Menopause International·Svetlana Vujovic
Dec 15, 2010·Current Biology : CB·Needhi Bhalla

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Citations

Mar 7, 2014·The New England Journal of Medicine·Sandrine CaburetEric Vilain

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