Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6213910 | International Journal of Pediatric Otorhinolaryngology | 2013 | 5 Pages |
Abstract
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 1.38Â Mb duplication on chromosome 1q31.1, which was absent in his parents and 27 healthy controls. The duplication region contains two Refseq genes, PLA2G4A and C1orf99, which have not been reported to be implicated in craniofacial malformation. Functional studies of these genes and additional clinical analysis are necessary to elucidate the pathogenesis of craniofacial malformation.
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Authors
Xue-shuang Huang, Bao Zhu, Hai-ou Jiang, Su-fan Wu, Zai-qi Zhang, Lin Xiao, Li-lan Yi, Jian-xiang Zhang,