Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma

We describe an as yet unreported neocentric small supernumerary marker chromosome (sSMC) derived from chromosome 1p21.3p21.2. It was present in 80% of the lymphocytes in a male patient with intellectual disability, severe speech deficit, mild dysmorphic features, and hyperactivity with elements of a...

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Detalles Bibliográficos
Autores principales: Brečević, Lukrecija, Rinčić, Martina, Krsnik, Željka, Sedmak, Goran, Hamid, Ahmed B., Kosyakova, Nadezda, Galić, Ivan, Liehr, Thomas, Borovečki, Fran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter Open 2015
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936614/
https://www.ncbi.nlm.nih.gov/pubmed/28123791
http://dx.doi.org/10.1515/tnsci-2015-0007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936614/
https://www.ncbi.nlm.nih.gov/pubmed/28123791
http://dx.doi.org/10.1515/tnsci-2015-0007

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