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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Main Authors: Gajecka, Marzena, Saitta, Sulagna C., Gentles, Andrew J., Campbell, Lindsey, Ciprero, Karen, Geiger, Elizabeth, Catherwood, Anne, Rosenfeld, Jill A., Shaikh, Tamim, Shaffer, Lisa G.
Format: Artigo
Language:Inglês
Published: 2010
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Article
Online Access: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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