Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

Nat Genet. 1997 Oct;17(2):154-63. doi: 10.1038/ng1097-154.


Smith-Magenis syndrome (SMS), caused by del(17)p11.2, represents one of the most frequently observed human microdeletion syndromes. We have identified three copies of a low-copy-number repeat (SMS-REPs) located within and flanking the SMS common deletion region and show that SMS-REP represents a repeated gene cluster. We have isolated a corresponding cDNA clone that identifies a novel junction fragment from 29 unrelated SMS patients and a different-sized junction fragment from a patient with dup(17)p11.2. Our results suggest that homologous recombination of a flanking repeat gene cluster is a mechanism for this common microdeletion syndrome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human, Pair 17 / genetics
  • DNA Primers / genetics
  • Gene Deletion*
  • Humans
  • Intellectual Disability / genetics
  • Molecular Sequence Data
  • Multigene Family*
  • Polymerase Chain Reaction
  • Recombination, Genetic*
  • Repetitive Sequences, Nucleic Acid*
  • Syndrome


  • DNA Primers

Associated data

  • GENBANK/AF012850
  • GENBANK/AF012851
  • GENBANK/AF012852