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Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1
Carrie Guy1, Xianfu Wang1, Xianglan Lu1
1University of Oklahoma Health Sciences Center Oklahoma City Oklahoma USA.
Clinical Case Reports
|October 21, 2016
Abstract:
We report a half-sibling cohort with deletion of 4p16.1, astigmatism, gross and fine motor delay, variable intellectual disability, and variable behavioral concerns. However, two siblings without the deletion also had learning delays and psychological concerns. Thus, variable phenotypic expression was seen and the significance of deletion of 4p16.1 remains unclear.
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