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Use of Y chromosome specific probes to detect low level sex chromosome mosaicism
Author(s) -
Tantravahi Umadevi,
Bianchi Diana W.,
Haley Christine,
Destrempes Margaret M.,
Ricker Alyne T.,
Korf Bruce R.,
Latt Samuel A.
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb00519.x
Subject(s) - karyotype , biology , chromosome , genetics , marker chromosome , y chromosome , ring chromosome , x chromosome , microbiology and biotechnology , gene
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.