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Article

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2014

Mikhail Fady M, Burnside Rachel D, Rush Brooke, Ibrahim Jennifer, Godshalk Robin, Rutledge S Lane, Robin Nathaniel H, Descartes Maria D, Carroll Andrew J

Abstract excerpt

PURPOSE: The five segmental duplications (LCR22-D to -H) at the distal region of chromosome 22 band q11.2 in the region immediately distal to the DiGeorge/velocardiofacial syndrome deleted region have been implicated in the recurrent distal 22q11.2 microdeletions. To date, the distal 22q11.2 microdeletions have been grouped together as a single clinical entity despite the fact that these deletions are variable in...

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

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Identifiers

PMID: 23765049
DOI: 10.1038/gim.2013.79

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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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