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Article

Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.

Journal of Korean medical science - 1 Dec 2010

Ko Jung Min, Kim Jun Bum, Pai Ki Soo, Yun Jun-No, Park Sang-Jin

Abstract excerpt

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this...

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Identifiers

PMID: 21165297
DOI: 10.3346/jkms.2010.25.12.1798
PMCID: PMC2995236

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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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