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Short report
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes
  1. A Bottaa,
  2. G Novellia,
  3. A Maria,
  4. A Novellia,
  5. M Sabania,
  6. J Korenbergb,
  7. L R Osbornec,
  8. M C Digiliod,
  9. A Giannottid,
  10. B Dallapiccolaa
  1. aDepartment of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome and CSS-Mendel Institute, Rome, Italy, bDepartment of Molecular Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA, cDepartment of Genetics, The Hospital for Sick Children, Toronto, Canada, dMedical Genetics Service, Bambino Gesù Hospital, Rome, Italy
  1. Dr G Novelli, Cattedra di Genetica Umana, Università di Roma “Tor Vergata”, Via di Tor Vergata 135, Ed E-Nord, 00133 Roma, Italy.

Abstract

We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.

  • Williams syndrome
  • elastin
  • syntaxin
  • frizzled

https://doi.org/10.1136/jmg.36.6.478

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