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46,XY pure gonadal dysgenesis with non‐fluorescent Y chromosome
Author(s) -
Gaál M.,
László J.,
Bósze P.
Publication year - 1978
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.1399-0004.1978.tb02111.x
Subject(s) - primary amenorrhea , karyotype , gonad , biology , gonadal dysgenesis , y chromosome , chromosome , x chromosome , genetics , microbiology and biotechnology , endocrinology , gene
A 46,XY karyotype with a non‐fluorescent Y chromosome was found in an infantile girl aged 16 with primary amenorrhea. Identification of the Y chromosome was made by different staining techniques and a photometric scanning method. The histology of the streak gonad also indicated the Y character of the chromosome. The authors' interpretation is a 46,XY pure gonadal dysgenesis with a non‐fluorescent Y chromosome.