Article
Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals.
American journal of medical genetics. Part A - 1 Jan 2025
McRae Anne M, Duncan Jaime, Drackley Andy, Ing Alexander, Allegretti Valerie, Raski Carolyn R, Mercier Angelique, Prada Carlos E, Jurgensmeyer Sarah
Abstract excerpt
The recurrent chromosome 16p11.2 BP4-BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility to early-onset obesity. We identified 22 new individuals with proximal 16p11.2 deletions through retrospective data analysis at our institution and performed phenotyping through in-depth chart review. Our cohort exhibited a spectrum of...
Topics
- Humans
- Chromosomes, Human, Pair 16
- Chromosome Deletion
- Female
- Male
- Child
- Intellectual Disability
- Adolescent
- Child, Preschool
- Phenotype
- Chromosome Disorders