Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

@article{Shaikh2000Chromosome2L,
  title={Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.},
  author={Tamim H. Shaikh and Hiroki Kurahashi and Sulagna C. Saitta and Ann M. O'Hare and Ping Hu and B. A. Roe and Deborah A. Driscoll and Donna M. McDonald-McGinn and Elaine H. Zackai and Marcia L. Budarf and Beverly S. Emanuel},
  journal={Human molecular genetics},
  year={2000},
  volume={9 4},
  pages={
          489-501
        }
}
The 22q11.2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes (DGS/VCFS), is the most common microdeletion syndrome. The majority of deleted patients share a common 3 Mb hemizygous deletion of 22q11.2. The remaining patients include those who have smaller deletions that are nested within the 3 Mb typically deleted region (TDR) and a few with rare deletions that have no overlap with the TDR. The identification of chromosome 22-specific duplicated sequences or low copy… CONTINUE READING
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