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  • Title: Use of Y chromosome specific probes to detect low level sex chromosome mosaicism.
    Author: Tantravahi U, Bianchi DW, Haley C, Destrempes MM, Ricker AT, Korf BR, Latt SA.
    Journal: Clin Genet; 1986 May; 29(5):445-8. PubMed ID: 3742851.
    Abstract:
    An individual found to be a true hermaphrodite at laparotomy, is presented. Cytogenetic studies which initially disclosed a 46,XX karyotype, conflicted with the anatomic presence of a testis. More extensive analysis of peripheral lymphocytes and skin fibroblasts revealed low level 46,XX/69,XXY mosaicism. DNA hybridization studies, using highly repeated Y chromosome specific probes, confirmed the rare presence of Y chromosome bearing cells. Such combined clinical and molecular studies can have an important impact on diagnosis and management of cases in which sex chromosome mosaicism is suspected.
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