A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization

BACKGROUND: Karyotyping is considered the gold standard for the genome-wide detection of genomic imbalances in prenatal diagnosis, but it has a number of inherent limitations, namely the time required to culture cell and the limited resolution(5 ~ 10 Mb). Although fluorescence in situ hybridization...

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Detalles Bibliográficos
Main Authors: Qi, Qingwei, Zhou, Xiya, Jiang, Yulin, Hao, Na, Zhou, Jing, Zhang, Liang
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2013
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3599797/
https://ncbi.nlm.nih.gov/pubmed/23497671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-11
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