Trisomy 16p: A longitudinal profile and photo essay | Zendy

Sommer Annemarie | Zendy; Pastore Matthew | Zendy; Wenger Gail | Zendy

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Trisomy 16p: A longitudinal profile and photo essay

Author(s) -

Sommer Annemarie,

Pastore Matthew,

Wenger Gail

Publication year - 2005

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.31027

Subject(s) - microcephaly , chromosomal translocation , trisomy , partial trisomy , phenotype , psychomotor retardation , psychomotor learning , biology , genetics , neuroscience , medicine , chromosome , pathology , karyotype , gene , cognition , alternative medicine

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. © 2005 Wiley‐Liss, Inc.

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