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November 12, 2008American Journal of Medical Genetics Part A

Distal 22q11.2 microduplication encompassing the BCR gene

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Authors

MDMaria DescartesBaptist Hospital of MiamiJFJudy FranklinUniversity of Alabama at BirminghamTSTeresita Díaz de StåhlKarolinska University Hospital

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Descartes et al. (2008) studied this question.

synapsesocial.com/papers/6a92a2e5ab121d91d03ab87bhttps://doi.org/10.1002/ajmg.a.32572
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene2007 · 44 citations
  2. 2Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms2007 · 125 citations
  3. 3Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis2000 · 531 citations
  4. 4Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities2005 · 413 citations