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Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2)
Author(s) -
Tonk Vijay S.,
Jesurun C.A.,
Morgan David L.,
Lockhart Lillian H.,
Velagaleti Gopalrao V.N.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20384
Subject(s) - chromosomal inversion , dup , genetics , biology , recombinant dna , chromosome , chromosome 9 , chromosome 22 , cytogenetics , chromosome 21 , karyotype , gene , gene duplication
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. © 2003 Wiley‐Liss, Inc.