| Autor: |
Gantt, Pickens A., Byrd, J. Rogers, Greenblatt, Robert B., McDonough, Paul G. |
| Zdroj: |
Fertility and Sterility; September 1980, Vol. 34 Issue: 3 p216-221, 6p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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