Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1

Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication,...

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Vydáno v:Appl Clin Genet
Hlavní autoři: Ochando, Isabel, Martínez, Melanie Cristine Alonzo, Serrano, Ana María, Urbano, Antonio, Cazorla, Eduardo, Calvo, Dolores, Rueda, Joaquín
Médium: Artigo
Jazyk:Inglês
Vydáno: Dove Medical Press 2018
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6037148/
https://ncbi.nlm.nih.gov/pubmed/30013380
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S159377
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