Article
17q12 microduplications: a challenge for clinicians.
American journal of medical genetics. Part A - 1 Mar 2015
Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, Toschi B, Saggese G, Simi P, Valetto A
Abstract excerpt
In the recent years, some cases of 17q12 deletions and duplications have been reported, but the clinical impact of these imbalances is still to be fully elucidated. In particular, 17q12 duplications elude syndrome classification, since they are associated with a wide phenotypic spectrum, ranging from very mild to quite severe phenotypes. Here, two unrelated patients with the same 1.2 Mb microduplication of 17q12...
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