title: De novo structure variations of the Y chromosome in a 47,XXY female with ovarian failure: a case report.
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.
authors.affiliation: The Key Laboratory of Stem Cell Biology, Institute of Health Sciences, Shanghai Jiao Tong University School of Medicine and Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, PR China.
authors.forename: Bin
authors.initials: B
authors.lastname: Lin
authors.forename: Fengqin
authors.initials: F
authors.lastname: Tan
authors.forename: Heng
authors.initials: H
authors.lastname: Xu
authors.forename: Ping
authors.initials: P
authors.lastname: Wang
authors.forename: Quan
authors.initials: Q
authors.lastname: Tang
authors.forename: Yufei
authors.initials: Y
authors.lastname: Zhu
authors.forename: Xiangyin
authors.initials: X
authors.lastname: Kong
authors.forename: Landian
authors.initials: L
authors.lastname: Hu
mesh_terms: D000328:Adult; D041322:Chromosomes, Human, Y / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D024282:Genes, sry; D006801:Humans; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000235:genetics; D025202:Molecular Diagnostic Techniques; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis* / Q000235:genetics