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Article

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.

Developmental disabilities research reviews - 1 Jan 2008

Emanuel Beverly S

Abstract excerpt

Several recurrent, constitutional genomic disorders are present on chromosome 22q. These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise to the recurrent t(11;22) supernumerary der(22) syndrome (Emanuel syndrome). The rearrangement breakpoints on 22q cluster around the chromosome-specific segmental duplications of proximal...

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Share to Chromosome Breakage
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DiGeorge Syndrome

Share to Gene Duplication

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Share to Repetitive Sequences, Nucleic Acid

Share to Translocation, Genetic

Source

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Identifiers

PMID: 18636632
DOI: 10.1002/ddrr.3
PMCID: PMC2810965

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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