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...
Topics
- Anophthalmos
- Child, Preschool
- Chromosome Duplication
- Chromosomes, Human, Pair 1
- Cleft Lip
- Cleft Palate
- Congenital Abnormalities
- Congenital Microtia
- Ear
- Facial Asymmetry
- Humans
- Intellectual Disability
- Macrostomia