Article
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Human molecular genetics - 1 Oct 2011
Luo Yue, Hermetz Karen E, Jackson Jodi M, Mulle Jennifer G, Dodd Anne, Tsuchiya Karen D, Ballif Blake C, Shaffer Lisa G, Cody Jannine D, Ledbetter David H, Martin Christa L, Rudd M Katharine
Abstract excerpt
Chromosome rearrangements are a significant cause of intellectual disability and birth defects. Subtelomeric rearrangements, including deletions, duplications and translocations of chromosome ends, were first discovered over 40 years ago and are now recognized as being responsible for several genetic syndromes. Unlike the deletions and duplications that cause some genomic disorders, subtelomeric rearrangements do...
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