| Autor: |
Onufer CN; Department of Pediatrics, Madigan Army Medical Center, Tacoma, Washington 98431., Stephan MJ, Thuline HC, Char F |
| Jazyk: |
angličtina |
| Zdroj: |
Annales de genetique [Ann Genet] 1987; Vol. 30 (4), pp. 236-9. |
| Abstrakt: |
A 22-year-old Caucasian mildly retarded male presented with facial features of high nasal bridge, prominent supraorbital ridges, some malar hypoplasia, prognathism, short philtrum, and prominent full lips associated with shortness of stature, nuchal webbing, and esotropia. His cardiac exam and genital development were normal. The diagnosis of Noonan syndrome had been previously entertained. A chromosome analysis revealed an interstitial deletion of a chromosome 13 at (q21.32q22.3). |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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