Karger Publishers
Browse
000366170_sm_Tables.doc (87.5 kB)

Supplementary Material for: De novo Structure Variations of the Y Chromosome in a 47,XXY Female with Ovarian Failure: A Case Report

Download (87.5 kB)
dataset
posted on 2014-09-10, 00:00 authored by Lin B., Tan F., Xu H., Wang P., Tang Q., Zhu Y., Kong X., Hu L.
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.

History

Usage metrics

    Cytogenetic and Genome Research

    Categories

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC