Article
A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.
Genes - 26 Jun 2020
Palumbo Orazio, Palumbo Pietro, Di Muro Ester, Cinque Luigia, Petracca Antonio, Carella Massimo, Castori Marco
Abstract excerpt
No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with a de novo 16q24.2q24.3 microduplication at the Single Nucleotide Polymorphism (SNP)-array analysis spanning ~2.2 Mb and encompassing 38 genes. The patient showed mild-to-moderate intellectual disability, speech...
Topics
- Cadherins
- Chromosome Deletion
- Chromosome Duplication
- Chromosomes, Human, Pair 16
- Comparative Genomic Hybridization
- Data Management
- Genomics
- Humans
- Intellectual Disability
- Language Development Disorders