title: Clinical report: variable phenotypic expression in a large sibling cohort with a deletion of 4p16.1.
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.
authors.affiliation: University of Oklahoma Health Sciences Center Oklahoma City Oklahoma USA.
authors.forename: Carrie
authors.identifier: 0000-0002-3349-6597
authors.initials: C
authors.lastname: Guy
authors.affiliation: University of Oklahoma Health Sciences Center Oklahoma City Oklahoma USA.
authors.forename: Xianfu
authors.initials: X
authors.lastname: Wang
authors.affiliation: University of Oklahoma Health Sciences Center Oklahoma City Oklahoma USA.
authors.forename: Xianglan
authors.initials: X
authors.lastname: Lu
authors.affiliation: University of Oklahoma Health Sciences Center Oklahoma City Oklahoma USA.
authors.forename: Jin
authors.initials: J
authors.lastname: Lu
authors.affiliation: University of Oklahoma Health Sciences Center Oklahoma City Oklahoma USA.
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
keywords: 4p16.1; WFS1; chromosome 4; deletion; microarray