TY - JOUR
T1 - A 46,XY female with mixed gonadal dysgenesis and a 48,XY,+7,+i(12p) chromosome pattern in a primary gonadal tumor
AU - Hamers, A.
AU - de Jong, B.
AU - Suijkerbuijk, R. F.
AU - Geurts van Kessel, A.
AU - Oosterhuis, J. W.
AU - van Echten, J.
AU - Evers, J.
AU - Bosman, F.
PY - 1991/12
Y1 - 1991/12
N2 - Cytogenetic analysis of a primary germ-cell tumor originating from the streak gonad of a 20-year-old phenotypic female with a 46,XY karyotype and mixed gonadal dysgenesis revealed a 48,XY,+7,+i(12p) chromosomal pattern. Germ-cell tumors originating from gonads of normal males are usually highly aneuploid. An isochromosome 12p as well as an overrepresentation of chromosome 7 material are among the specific changes most consistently observed. The present case shows that tumors of dysgenetic gonads, albeit being near-diploid, may exhibit similar chromosomal changes. This observation lends additional support to the hypothesis that these specific cytogenetic anomalies may play an important role in the pathogenesis of human germ-cell tumors.
AB - Cytogenetic analysis of a primary germ-cell tumor originating from the streak gonad of a 20-year-old phenotypic female with a 46,XY karyotype and mixed gonadal dysgenesis revealed a 48,XY,+7,+i(12p) chromosomal pattern. Germ-cell tumors originating from gonads of normal males are usually highly aneuploid. An isochromosome 12p as well as an overrepresentation of chromosome 7 material are among the specific changes most consistently observed. The present case shows that tumors of dysgenetic gonads, albeit being near-diploid, may exhibit similar chromosomal changes. This observation lends additional support to the hypothesis that these specific cytogenetic anomalies may play an important role in the pathogenesis of human germ-cell tumors.
UR - http://www.scopus.com/inward/record.url?scp=0026317493&partnerID=8YFLogxK
U2 - 10.1016/0165-4608(91)90155-N
DO - 10.1016/0165-4608(91)90155-N
M3 - Article
C2 - 1756501
AN - SCOPUS:0026317493
SN - 0165-4608
VL - 57
SP - 219
EP - 224
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
IS - 2
ER -