Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2)

Am J Med Genet A. 2004 Jan 1;124A(1):92-5. doi: 10.1002/ajmg.a.20384.

Abstract

Pericentric inversions occur at a frequency of 0.12-0.7% in humans. However, pericentric inversions of chromosome 22 appear to be common, especially in patients originating from the Guadalajara region of Mexico. Here, we report a seventh case of a pericentric inversion of chromosome 22, the resulting recombinant chromosome, and describe the phenotypic features associated with such a recombinant chromosome. It is interesting that five of the seven patients with inv(22) come from Mexico, and four of the five patients from the Guadalajara region.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Cleft Lip
  • Cleft Palate
  • Face / abnormalities
  • Humans
  • Infant, Newborn
  • Male
  • Mexico
  • Phenotype
  • Trisomy*