TY - JOUR
T1 - Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21
AU - Sulewski, J. M.
AU - Dang, T. P.
AU - Ward, S.
AU - Ladda, R. L.
PY - 1980
Y1 - 1980
N2 - The proband was evaluated at 19 years of age because of primary amenorrhoea and, on chromosomal analysis, was found to have a 46,XY karyotype in 75% of her cells and 48,XY,+8,+21 in 25% of her cells. She appeared normal at birth and exhibited normal intellectual and physical development until puberty when secondary sexual differentiation failed. This young woman showed none of the dysmorphic features associated with either trisomy 8 or trisomy 21. Her XY gonadal dysgenesis was manifested by late developmental problems of amenorrhoea, sexual infatilism, and gonadal neoplasia.
AB - The proband was evaluated at 19 years of age because of primary amenorrhoea and, on chromosomal analysis, was found to have a 46,XY karyotype in 75% of her cells and 48,XY,+8,+21 in 25% of her cells. She appeared normal at birth and exhibited normal intellectual and physical development until puberty when secondary sexual differentiation failed. This young woman showed none of the dysmorphic features associated with either trisomy 8 or trisomy 21. Her XY gonadal dysgenesis was manifested by late developmental problems of amenorrhoea, sexual infatilism, and gonadal neoplasia.
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U2 - 10.1136/jmg.17.4.321
DO - 10.1136/jmg.17.4.321
M3 - Article
C2 - 6451706
AN - SCOPUS:0019153440
SN - 0022-2593
VL - 17
SP - 321
EP - 323
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 4
ER -