Phenotype of 7q11.23 duplication: A family clinical series

Duplication 7q11.23 syndrome is the reciprocal of Williams–Beuren deletion syndrome. Studies have reported a recognizable phenotype, including autism, intellectual disability, speech, and language delay, social anxiety, and behavioral difficulties in these individuals. Previous studies revealed a variety of craniofacial abnormalities, brain malformations, and cardiac abnormalities, including aortic dilation. This patient 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 three experienced broken bones/fractures with minimal trauma. Other features included frequent headaches, sleep problems, hydrocephalus, 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. All five family members with 7q11.23 syndrome meet criteria for autism spectrum disorder. Adaptive functioning is impaired for all four children, but higher for the children's father. The infant shows developmental delays in language and motor skills, but some improvements in reciprocal social behaviors over time. Two children exhibit hyperactivity and inattention, and the father and second youngest child exhibit anxiety. This family clinical series contributes to the growing literature on the phenotype of 7q11.23 microduplication syndrome across the age range. Physicians are encouraged to urge focused medical surveillance and intensive early intervention targeting speech-language and social reciprocity. © 2016 Wiley Periodicals, Inc.

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