Article
Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.
BMC medical genomics - 10 Mar 2021
Szelest Monika, Stefaniak Martyna, Ręka Gabriela, Jaszczuk Ilona, Lejman Monika
Abstract excerpt
BACKGROUND: 16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare among the general population, it is one of the serious known genetic aetiologies of obesity and autism spectrum disorder. CASE PRESENTATION: This study presents three cases of deletions within the...
Topics
- Humans
- Chromosomes, Human, Pair 16
- Chromosome Deletion
- Male
- Female
- Child, Preschool
- Child
- Chromosome Disorders
- Intellectual Disability
- Infant
- Phenotype