Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

A. Botta, G. Novelli, A. Mari, A. Novelli, M. Sabani, J. Korenberg, L. R. Osborne, M. C. Digilio, A. Giannotti, B. Dallapiccola

Research output: Contribution to journalArticle

69 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)478-480
Number of pages3
JournalJournal of Medical Genetics
Volume36
Issue number6
Publication statusPublished - 1999

Fingerprint

Williams Syndrome
Syntaxin 1
Genes
Elastin
Genetic Association Studies
Phenotype

Keywords

  • Elastin
  • Frizzled
  • Syntaxin
  • Williams syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. / Botta, A.; Novelli, G.; Mari, A.; Novelli, A.; Sabani, M.; Korenberg, J.; Osborne, L. R.; Digilio, M. C.; Giannotti, A.; Dallapiccola, B.

In: Journal of Medical Genetics, Vol. 36, No. 6, 1999, p. 478-480.

Research output: Contribution to journalArticle

Botta, A. ; Novelli, G. ; Mari, A. ; Novelli, A. ; Sabani, M. ; Korenberg, J. ; Osborne, L. R. ; Digilio, M. C. ; Giannotti, A. ; Dallapiccola, B. / Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes. In: Journal of Medical Genetics. 1999 ; Vol. 36, No. 6. pp. 478-480.
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AU - Sabani, M.

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