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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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Detalles Bibliográficos
Publicado en:Mol Cytogenet
Main Authors: Szabo, Andras, Czako, Marta, Hadzsiev, Kinga, Duga, Balazs, Komlosi, Katalin, Melegh, Bela
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2015
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Acceso en liña: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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