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Palmoplantar keratoderma in a patient with a chromosome 12q deletion


Book ID
116583773
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
43 KB
Volume
58
Category
Article
ISSN
1097-6787

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De novo deletion 12q: Report of a patien
โœ Sathya, Pushpa; Tomkins, Darrell J.; Freeman, Viola; Paes, Bosco; Nowaczyk, Ma?g ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 18 KB ๐Ÿ‘ 2 views

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