Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

Smith-Magenis syndrome (SMS) is caused by an ∼4-Mb heterozygous interstitial deletion on chromosome 17p11.2 in ∼80%–90% of affected patients. Three large (∼200 kb), complex, and highly homologous (∼98%) low-copy repeats (LCRs) are located inside or flanking the SMS common deletion. These repeats, al...

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Bibliographic Details
Main Authors: Bi, Weimin, Park, Sung-Sup, Shaw, Christine J., Withers, Marjorie A., Patel, Pragna I., Lupski, James R.
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2003
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180396/
https://ncbi.nlm.nih.gov/pubmed/14639526
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