Distribution of marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis.
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.
Petrusevska
R
R
Institute of Human Genetics, J.W. Goethe-University Clinic, Frankfurt/Main, Germany.
Beudt
U
U
Schäfer
D
D
Schneider
M
M
Brude
E
E
Leitner
C
C
Heller
K
K
Arnemann
J
J
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