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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| 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 |