Molecular Cytogenetic Characterization of a Recombinant Chromosome rec(22)dup(22q)inv(22)(p13q12.2)

Vijay S. Tonk, C. A. Jesurun, David L. Morgan, Lillian H. Lockhart, Gopalrao V.N. Velagaleti

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)92-95
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume124 A
Issue number1
StatePublished - Jan 1 2004
Externally publishedYes

Keywords

  • Distal 22q trisomy
  • Dysmorphism
  • Pericentric inversion
  • Recombinant

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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