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Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints
Deletions of chromosome 1p36 are one of the most frequently encountered subtelomeric alterations. Clinical features of monosomy 1p36 include neurocognitive impairment, hearing loss, seizures, cardiac defects, and characteristic facial features. The majority of cases have occurred sporadically, imply...
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| Autors principals: | , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2010
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3058890/ https://ncbi.nlm.nih.gov/pubmed/21108392 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33733 |
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