A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma

Cat-eye syndrome (CES) results from trisomy or tetrasomy of proximal 22q originated by a small supernumerary marker chromosome (sSMC). Two critical regions for the major clinical features of CES (CESCRs) have been suggested; however, CES clinical presentation often does not correlate with the sSMC g...

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Hlavní autoři: Córdova-Fletes, C., Domínguez, M.G., Vázquez-Cárdenas, A., Figuera, L.E., Neira, V.A., Rojas-Martínez, A., Ortiz-López, R.
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2012
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3473349/
https://ncbi.nlm.nih.gov/pubmed/23112755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000341632
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