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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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Bibliografiske detaljer
Udgivet i:Mol Cytogenet
Main Authors: Szabo, Andras, Czako, Marta, Hadzsiev, Kinga, Duga, Balazs, Komlosi, Katalin, Melegh, Bela
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Online adgang: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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