TY - JOUR
T1 - A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis
AU - Gantt, P. A.
AU - Byrd, J. R.
AU - Greenblatt, R. B.
AU - McDonough, P. G.
PY - 1980
Y1 - 1980
N2 - The cytogenetic and phenotypic findings in 15 patients with 45,X/46,XY mosaicism are described. Six patients presented with delayed sexual development without masculinization. The remaining nine patients had varying degrees of masculinization, ranging from clitoromegaly to hypospadic male phenotypes. Cardiovascular/renal anomalies were detected in 2 of the 15 patients. Gonadoblastomas were present in two patients and did not appear to correlate with the degree of masculinization or percentage of 46,XY cells present. Structural Y chromosome abnormalities were seen in three of the 45,X/46,XY probands. MZ twinning occurred in one of the 45,X/46,XY sibships.
AB - The cytogenetic and phenotypic findings in 15 patients with 45,X/46,XY mosaicism are described. Six patients presented with delayed sexual development without masculinization. The remaining nine patients had varying degrees of masculinization, ranging from clitoromegaly to hypospadic male phenotypes. Cardiovascular/renal anomalies were detected in 2 of the 15 patients. Gonadoblastomas were present in two patients and did not appear to correlate with the degree of masculinization or percentage of 46,XY cells present. Structural Y chromosome abnormalities were seen in three of the 45,X/46,XY probands. MZ twinning occurred in one of the 45,X/46,XY sibships.
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U2 - 10.1016/s0015-0282(16)44950-2
DO - 10.1016/s0015-0282(16)44950-2
M3 - Article
C2 - 7409242
AN - SCOPUS:0018930448
SN - 0015-0282
VL - 34
SP - 216
EP - 221
JO - Fertility and sterility
JF - Fertility and sterility
IS - 3
ER -