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Article

A de novo 1.38 Mb duplication of 1q31.1 in a boy with hemifacial microsomia, anophthalmia, anotia, macrostomia, and cleft lip and palate.

International journal of pediatric otorhinolaryngology - 1 Apr 2013

Huang Xue-shuang, Zhu Bao, Jiang Hai-ou, Wu Su-fan, Zhang Zai-qi, Xiao Lin, Yi Li-lan, Zhang Jian-xiang

Abstract excerpt

We reported a 2-year-old boy with developmental delay, mild mental retardation, and severe craniofacial malformation, including facial asymmetry with hypoplasia of the left zygoma, maxilla, and mandible, and left anophthalmia and anotia. A genome-wide screen revealed a 1.38 Mb duplication on chromosome 1q31.1, which was absent in his parents and 27 healthy controls. The duplication region contains two Refseq...

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Identifiers

PMID: 23312528
DOI: 10.1016/j.ijporl.2012.12.006

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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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