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Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia
Author(s) -
Bisat Tarek,
May Kristin,
Litwer Stuart,
Broecker Bruce
Publication year - 1993
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.1399-0004.1993.tb03865.x
Subject(s) - karyotype , biology , girl , y chromosome , x chromosome , turner syndrome , centromere , phenotype , chromosome , external genitalia , genetics , anatomy , pathology , endocrinology , medicine , gene
Bisat T, May K, Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet 1993: 44: 142–145. © Munksgaard, 1993 We describe a girl with virilized external genitalia and phenotypic features of Turner syndrome whose blood karyotype is 45,X. The presence of dysgenetic testicular tissue was confirmed by pathology. Using PCR and primers for the distal long arm, centromere and short arm of the Y chromosome, Y chromosome material was detected in her gonads but not in blood.