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Article

Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.

Journal of human genetics - 1 Nov 2011

Shimojima Keiko, Okamoto Nobuhiko, Inazu Tetsuya, Yamamoto Toshiyuki

Abstract excerpt

22q11.2 duplication syndrome has recently been established as a new syndrome manifesting broad clinical phenotypes including mental retardation. It is reciprocal to DiGeorge (DGS)/velo-cardio-facial syndrome (VCFS), in which the same portion of the chromosome is hemizygously deleted. Deletions an...

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Share to Chromosomes, Human, Pair 22
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Source

Identifiers

PMID: 21866110
DOI: 10.1038/jhg.2011.100

Genes

TBX1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21866110-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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