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Article

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.

American journal of medical genetics. Part A - 1 Jan 2014

Okamoto Nobuhiko, Fujii Tatsuya, Tanaka Junko, Saito Kazumasa, Matsui Takeshi, Harada Naoki

Abstract excerpt

The short arm of chromosome 16 is rich in segmental duplications that result in chromosomal rearrangements through non-allelic homologous recombination. Several syndromes resulting from microdeletions or microduplications in this region have been reported. The chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-Mb [OMIM#613604] is characterized by minor facial anomalies, feeding difficulties, a significant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24259393
DOI: 10.1002/ajmg.a.36217

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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