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Distribution of marker‐Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis
Author(s) -
Petrusevska R.,
Beudt U.,
Schäfer D.,
Schneider M.,
Brude E.,
Leitner C.,
Heller K.,
Arnemann J.
Publication year - 1996
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.1399-0004.1996.tb03784.x
Subject(s) - gonadoblastoma , gonadal dysgenesis , biology , karyotype , turner syndrome , y chromosome , gonad , x chromosome , chromosome , pathology , endocrinology , genetics , medicine , gene
We here describe a 12‐year‐old girl with numerous Turner stigmata and virilized external genitalia. Chromosome analysis of PHA stimulated lymphocytes using different banding techniques revealed a 45,X/46,X,+mar Turner mosaicism with the prominent marker present in about 90% of the blood cells. A PCR‐based analysis using a set of 9 STS from different regions of the human Y chromosome indicated the presence of Y chromosomal material with a deletion breakpoint most likely within deletion interval 6. Because of the risk of gonadoblastoma for Turner patients carrying Y chromosomal material, and clinical indications of functional testicular tissue, a gonadectomy in addition to surgical correction of the external genitalia was performed. The histological analysis of the gonads showed a mixture of testicular tissue and ovarian stroma, thus indicating mixed gonadal dysgenesis. Fibroblasts from skin and different parts of the gonads were cytogenetically analyzed and showed a variable distribution of the Y‐derived marker between 4% in skin, 11–31% in gonadal tissue and up to 90% in peripheral lymphocytes.