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Article

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

American journal of medical genetics. Part A - 1 Jan 2004

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

Abstract excerpt

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...

Topics

Abnormalities, Multiple
Chromosome Inversion
Chromosomes, Human, Pair 22
Cleft Lip
Cleft Palate
Face
Humans
Infant, Newborn
Male
Mexico
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Trisomy

Source

Identifiers

PMID: 14679594
DOI: 10.1002/ajmg.a.20384

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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