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

Authors
  • Tonk, Vijay S
  • Jesurun, C A
  • Morgan, David L
  • Lockhart, Lillian H
  • Velagaleti, Gopalrao V N
Type
Published Article
Journal
American journal of medical genetics. Part A
Publication Date
Jan 01, 2004
Volume
124A
Issue
1
Pages
92–95
Identifiers
PMID: 14679594
Source
Medline
License
Unknown

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.

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