Article
A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review.
Molecular genetics & genomic medicine - 1 Apr 2026
Minale Elia Marco Paolo, Martone Stefania, Criscuolo Chiara, Marra Roberta, Lasorsa Vito Alessandro, Ruggiero Raffaella, Suero Teresa, Capasso Mario, Andolfo Immacolata, Iolascon Achille, Russo Roberta, Pinelli Michele
Abstract excerpt
BACKGROUND: The complex pathogenetic mechanisms of rare genetic diseases make the diagnostic process highly challenging. Advances in molecular genomic techniques, such as exome sequencing, have improved the identification of copy number variants (CNVs), increasing diagnostic yield. METHODS: We report the case of a female patient with global developmental delay, growth alterations, and dysmorphic features....
Topics
- Humans
- Female
- Phenotype
- Chromosome Deletion
- Chromosomes, Human, Pair 7
- Chromosome Duplication
- Developmental Disabilities
- Neurodevelopmental Disorders
- DNA-Binding Proteins