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Cryptic Subtelomeric Rearrangements and X Chromosome Mosaicism: A Study of 565 Apparently Normal Individuals with Fluorescent In Situ Hybridization

Five percent of patients with unexplained mental retardation have been attributed to cryptic unbalanced subtelomeric rearrangements. Half of these affected individuals have inherited the rearrangement from a parent who is a carrier for a balanced translocation. However, the frequency of carriers for...

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Auteurs principaux: Wise, Jasen L., Crout, Richard J., McNeil, Daniel W., Weyant, Robert J., Marazita, Mary L., Wenger, Sharon L.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2009
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2688762/
https://ncbi.nlm.nih.gov/pubmed/19516895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0005855
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