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Pure gonadal dysgenesis
Author(s) -
Nielsen J.,
Friedrich U.
Publication year - 1972
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.1399-0004.1972.tb01725.x
Subject(s) - karyotype , gonadal dysgenesis , chromosomal inversion , dysgenesis , biology , ring chromosome , chromosome , genetics , x chromosome , chromosome analysis , y chromosome , medicine , endocrinology , microbiology and biotechnology , gene
Chromosome examination with analysis of 500 cells in each of the three out of seven females with pure gonadal dysgenesis, who had the karyotype 46, XX, has been made in order to look for chromosome mosaics. The karyotype in two of the three was 46, XX as found from analysis of only 30 cells; one of them had, however, pericentric inversion of chromosome 1 in 2 of 500 cells. One patient had the karyotype 46, XX/46, XX,Dr with a ring D in 1.2% of the 500 cells analysed. The possibility that minor autosomal chromosome aberrations are aetiological factors in pure gonadal dysgenesis is discussed, and case histories of the three patients are presented.