Prenatal identification of partial 3q duplication syndrome

BACKGROUND: The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences resulting from genetic imbalance are an important source of information for geneti...

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Bibliografske podrobnosti
izdano v:BMC Med Genomics
Main Authors: Pasińska, Magdalena, Adamczak, Rafał, Repczyńska, Anna, Łazarczyk, Ewelina, Iskra, Barbara, Runge, Agata Klaudia, Haus, Olga
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2019
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6567560/
https://ncbi.nlm.nih.gov/pubmed/31196198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0547-y
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