De novo deletion 12q: Report of a patien
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Sathya, Pushpa; Tomkins, Darrell J.; Freeman, Viola; Paes, Bosco; Nowaczyk, Ma?g
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Article
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1999
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John Wiley and Sons
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English
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We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen