1. A de novo 1.38 Mb duplication of 1q31.1 in a boy with hemifacial microsomia, anophthalmia, anotia, macrostomia, and cleft lip and palate
- Author
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Zai-qi Zhang, Hai-ou Jiang, Su-fan Wu, Jian-xiang Zhang, Bao Zhu, Xue-shuang Huang, Lin Xiao, and Li-lan Yi
- Subjects
Male ,Cleft Lip ,Congenital Abnormalities ,Intellectual Disability ,Chromosome Duplication ,Medicine ,Humans ,Craniofacial ,Congenital Microtia ,Anophthalmia ,Macrostomia ,business.industry ,Anophthalmos ,Ear ,General Medicine ,Anatomy ,medicine.disease ,Hypoplasia ,Hemifacial microsomia ,Cleft Palate ,Otorhinolaryngology ,Facial Asymmetry ,Anotia ,Chromosomes, Human, Pair 1 ,Maxilla ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Mutation ,business ,Facial symmetry - 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 1.38 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.
- Published
- 2012