Premium
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features
Author(s) -
Nimmo Graeme A. M.,
Guerin Andrea,
BadillaPorras Ramses,
Stavropoulos Dimitri J.,
Yoon Grace,
Carter Melissa T.
Publication year - 2016
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.37483
Subject(s) - medicine , global developmental delay , palpebral fissure , anatomy , biology , genetics , gene , phenotype
The 16p12 region is particularly prone to genomic disorders due to the large number of low copy repeats [Martin et al., 2004; Nature 432:988–994]. We report two unrelated patients with de novo triplication of 16p12.1p12.3 who had developmental delay and similar facial features. Patient 1 is a 4‐year‐old male with a congenital heart anomaly, bilateral cryptorchidism, chronic constipation, and developmental delay. Patient 2 is a 12‐year‐old female with prenatally diagnosed hydronephrosis, hepatobiliary disease, failure to thrive, and developmental delay. Distinctive facial features common to both patients include short palpebral fissures, bulbous nose, thin upper vermillion border, apparently lowset ears, and large ear lobes. We compare the clinical manifestations of our patients with a previously reported patient with triplication of 16p12.2. © 2015 Wiley Periodicals, Inc.