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

doi:10.1002/ajmg.a.20384

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 journal › Article › peer-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 language	English (US)
Pages (from-to)	92-95
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	124 A
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.20384
State	Published - Jan 1 2004
Externally published	Yes

Keywords

Distal 22q trisomy
Dysmorphism
Pericentric inversion
Recombinant

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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AU - Tonk, Vijay S.

AU - Jesurun, C. A.

AU - Morgan, David L.

AU - Lockhart, Lillian H.

AU - Velagaleti, Gopalrao V.N.

PY - 2004/1/1

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N2 - 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.

AB - 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.

KW - Distal 22q trisomy

KW - Dysmorphism

KW - Pericentric inversion

KW - Recombinant

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

Abstract

Keywords

ASJC Scopus subject areas

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