P645: Genotype-phenotype correlations and clinical spectrum refinement in 3q26.31-3q28 deletions
Abstract
Interstitial deletions involving chromosome bands 3q26.31-3q28 are rare genomic abnormalities associated with global developmental delay (DD), fetal growth restriction, central nervous system (CNS) anomalies, and craniofacial dysmorphism. To date, reported cases remain rare, leaving the clinical and molecular spectrum incompletely defined. Here, we report five additional patients with heterozygous deletions within bands 3q26.31-3q28 and compare their phenotypic and cytogenomic findings with fifteen previously published cases to refine genotype-phenotype correlations and identify key haploinsufficient genes.
Fields of Study & Subjects
Genomic variations and chromosomal abnormalities
Genome Rearrangement Algorithms
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104135–104135
- Publication date
- 1 January 2026
- Language
- EN