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Trisomy 16p: A longitudinal profile and photo essay

✍ Scribed by Annemarie Sommer; Matthew Pastore; Gail Wenger

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
611 KB
Volume
140A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

As more cases of complete or partial trisomy 16p are described, a clinical picture of these patients is emerging. A specific phenotype appears to be most consistent if the band 16p13.1–16p13.3 is present in triplicate. The hallmarks of this syndrome are microcephaly, a specific facial appearance with round facies, micrognathia, and small protruding auricles, and psychomotor as well as growth retardation. We report on a patient with partial trisomy 16p due to a maternally‐inherited balanced translocation between chromosomes 2q and 16p and describe the change in phenotype over 21 years, as well as the level of development achieved. Β© 2005 Wiley‐Liss, Inc.

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