Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.

doi:10.1186/1471-2350-8-14

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Article

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.

BMC medical genetics - 2 Apr 2007

Torres-Juan Laura, Rosell Jordi, Sánchez-de-la-Torre Manuel, Fibla Joan, Heine-Suñer Damià

Abstract excerpt

BACKGROUND: The 22q11.2 deletion syndrome is the most frequent genomic disorder with an estimated frequency of 1/4000 live births. The majority of patients (90%) have the same deletion of 3 Mb (Typically Deleted Region, TDR) that results from aberrant recombination at meiosis between region specific low-copy repeats (LCRs). METHODS: As a first step towards the characterization of recombination rates and...

Topics

Alleles
Chromosome Deletion
Chromosome Disorders
Chromosome Mapping
Chromosomes, Human, Pair 22
Female
Gene Duplication
Genetic Markers
Humans
Linkage Disequilibrium
Male
Meiosis
Microsatellite Repeats
Pedigree
Recombination, Genetic

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PMID: 17397557
DOI: 10.1186/1471-2350-8-14
PMCID: PMC1855045

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