Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype

BACKGROUND: Large amounts of low copy number repeats in the 15q11.2q13.3 chromosomal region increase the possibility of misalignments and unequal crossover during meiosis in this region, leading to deletions, duplications, triplications and supernumerary chromosomes. Most of the reported cases with...

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Bibliographic Details
Published in:Mol Cytogenet
Main Authors: Szabo, Andras, Czako, Marta, Hadzsiev, Kinga, Duga, Balazs, Komlosi, Katalin, Melegh, Bela
Format: Artigo
Language:Inglês
Published: BioMed Central 2015
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4479342/
https://ncbi.nlm.nih.gov/pubmed/26110020
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0137-4
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