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Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.

Genes - 8 Oct 2024

Bisba Maria, Malamaki Christina, Constantoulakis Pantelis, Vittas Spiros

Abstract excerpt

The 15q11.2q13 chromosomal region is particularly susceptible to chromosomal rearrangements due to low-copy repeats (LCRs) located inside this area. Specific breakpoints (BP1-BP5) that lead to deletions and duplications of variable size have been identified. Additionally, this specific region contains several imprinted genes, giving rise to complex syndromes (Prader-Willi, Angelman and 15q11-q13 duplication...

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Child
Child, Preschool
Chromosome Duplication
Chromosomes, Human, Pair 15
Comparative Genomic Hybridization

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PMID: 39457428
DOI: 10.3390/genes15101304
PMCID: PMC11507414

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