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Chromosome 13 long arm interstitial deletion associated with features of Noonan phenotype

Onufer, C.N.; Stephan, M.J.; Thuline, H.C.; Char, F.

Annales de Genetique 30(4): 236-239

1987

ISSN/ISBN: 0003-3995
PMID: 3501267
Document Number: 289760
A 22-year-old Caucasians 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).

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