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Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome
Author(s) -
AlAwadi S. A.,
Cuschieri A.,
Farag T. I.,
Naguib K.,
Teebi A. S.,
Issa M.,
ElSayed M.
Publication year - 1983
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.1399-0004.1983.tb01868.x
Subject(s) - gonadal dysgenesis , biology , gonad , karyotype , buccal swab , x chromosome , y chromosome , chromosome , genetics , turner syndrome , chromatin , endocrinology , microbiology and biotechnology , medicine , gene
A case of mixed (asymmetric) gonadal dysgenesis is reported in a girl with ambiguous external genitalia, a right intra‐abdominal testis, a left streak gonad containing follicle‐like structures devoid of oocytes and bilateral Mullerian derivatives. Buccal smear cells were X‐chromatin negative and a Y‐chromatin body was present in 31% of cells. Cytogenetic studies in peripheral blood leucocyte cultures showed sex chromosome mosaicism with cell lines including structural abnormalities of the Y chromosome in 36% of the cells: 45, X/46, XY/46, X, + i(Yp)/46, X, + Yq–/47, XYY/47, XY + Yq‐.