Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease

Juan C. Prieto, Nilda M. Garcia, Frederick F. Elder, Andrew R. Zinn, Linda A. Baker

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

Phenotypically healthy carriers of the balanced 11;22 translocation, the most frequent non-Robertsonian constitutional translocation known in human beings, are at risk of having a progeny with supernumerary derivative (22)t(11;22) syndrome [der(22) syndrome]. We present the cases of 2 male patients with supernumerary der(22) syndrome [47,XY,+der(22)t(11;22)(q23;q11.2)mat], yielding partial trisomy for 22pter-q11 and 11q23-qter. These cases expand the phenotype of the der(22) syndrome, with the first case highlighting the phenotypic overlap of VACTERL and the second adding Hirschsprung's disease and intestinal malrotation to the list of associated anorectal anomalies. Because der(22) syndrome and cat eye syndrome (partial tetrasomy of 22q11) share a similar region of extra dosage on 22q11 and both typically manifest an anorectal phenotype, a dosage-sensitive gene for anorectal anomalies may be present in this locus.

Original languageEnglish (US)
Pages (from-to)1928-1932
Number of pages5
JournalJournal of Pediatric Surgery
Volume42
Issue number11
DOIs
StatePublished - Nov 1 2007

Keywords

  • Hirschsprung's disease
  • Microarray comparative genomic hybridization
  • Site-specific translocation t (11;22)
  • Supernumerary der(22)
  • VACTERL association

ASJC Scopus subject areas

  • Surgery
  • Pediatrics, Perinatology, and Child Health

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