Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype

We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results. The genotype–phenotype correlation between individual microarray and clinical findings adds to the emerging...

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Marinescu, Ponnila S, Saller, Devereux N, Parks, W Tony, Yatsenko, Svetlana A, Rajkovic, Aleksandar
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2015
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4352360/
https://ncbi.nlm.nih.gov/pubmed/25767704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.162
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