Phenotype of 7q11.23 duplication genetic syndrome: A family case-study.

2014

Marian Williams
[email protected]
323-361-8525

This case series evaluates five family members aged 2 months to 35 years, all with confirmed 7q11.23 duplication syndrome. All had characteristic craniofacial findings and joint hyperextensibility, and two experienced fractures with minimal trauma. Other features included frequent headaches, astigmatism, sleep problems, trapezoid-shaped head, ocular hypertelorism, hydrocephalus, strabismus, asthma, very short neck, undescended testicles, possible seizure, asymmetric background activities on electroencephalogram, and in two of the children, mildly dilated aortic root and ascending aorta. Psychological test results reveal borderline to low average nonverbal cognitive abilities and speech and language delays. Four out of the five family members have autism spectrum disorder. Adaptive functioning is impaired for all four children, but higher for the childrens father. The infant shows developmental delays in language and motor skills, but some improvements in reciprocal social behaviors

7611.23 duplication, genetic, autism

Peer-reviewed publications in scholarly journals submitted

Professionals, Students

N/A