| Literature DB >> 16353251 |
Annemarie Sommer1, Matthew Pastore, Gail Wenger.
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.Entities:
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Year: 2006 PMID： 16353251 DOI： 10.1002/ajmg.a.31027
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802