title: Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis.
abstract: 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.
authors.affiliation: Institute of Human Genetics, J.W. Goethe-University Clinic, Frankfurt/Main, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Petrusevska
authors.forename: U
authors.initials: U
authors.lastname: Beudt
authors.forename: D
authors.initials: D
authors.lastname: Schäfer
authors.forename: M
authors.initials: M
authors.lastname: Schneider
authors.forename: E
authors.initials: E
authors.lastname: Brude
authors.forename: C
authors.initials: C
authors.lastname: Leitner
authors.forename: K
authors.initials: K
authors.lastname: Heller
authors.forename: J
authors.initials: J
authors.lastname: Arnemann
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications / Q000235:genetics*; D006801:Humans; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*; D014998:Y Chromosome