Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA

KEY CLINICAL MEASSAGE: Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in pa...

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Detalles Bibliográficos
Autores principales: Sanchez-Jimeno, Carolina, Bustamante-Aragonés, Ana, Infantes-Barbero, Fernando, Rodriguez De Alba, Marta, Ramos, Carmen, Trujillo-Tiebas, María Jose, Lorda-Sánchez, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270714/
https://www.ncbi.nlm.nih.gov/pubmed/25548634
http://dx.doi.org/10.1002/ccr3.117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270714/
https://www.ncbi.nlm.nih.gov/pubmed/25548634
http://dx.doi.org/10.1002/ccr3.117

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