De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay

We report on a nine years old girl born after 41 weeks of normal gestation with psychomotor retardation, speech delay and minimal dysmorphic signs: antimongolic cut eyes, small mouth, short philtrum and hypertelorism. The use of the high-resolution Affymetrix Human Mapping GeneChip 250 K NspI array...

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Detalles Bibliográficos
Autores principales: Piovani, Giovanna, Savio, Giulia, Traversa, Michele, Pilotta, Alba, De Petro, Giuseppina, Barlati, Sergio, Magri, Chiara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005464/
https://www.ncbi.nlm.nih.gov/pubmed/24735523
http://dx.doi.org/10.1186/1755-8166-7-25

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005464/
https://www.ncbi.nlm.nih.gov/pubmed/24735523
http://dx.doi.org/10.1186/1755-8166-7-25

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