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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...

詳細記述

保存先:
書誌詳細
主要な著者: Wise, Jasen L., Crout, Richard J., McNeil, Daniel W., Weyant, Robert J., Marazita, Mary L., Wenger, Sharon L.
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2009
主題:
オンライン・アクセス: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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