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Article

Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.

American journal of medical genetics. Part A - 1 Mar 2016

Nimmo Graeme A M, Guerin Andrea, Badilla-Porras Ramses, Stavropoulos Dimitri J, Yoon Grace, Carter Melissa T

Abstract excerpt

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....

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PMID: 26647099
DOI: 10.1002/ajmg.a.37483

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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