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

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

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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.

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