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Article

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.

Journal of medical genetics - 1 May 2003

Meins M, Burfeind P, Motsch S, Trappe R, Bartmus D, Langer S, Speicher M R, Mühlendyck H, Bartels I, Zoll B

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 22
Share to Eye Abnormalities

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

Share to Gene Duplication

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Share to Infant, Newborn

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Identifiers

PMID: 12746416
DOI: 10.1136/jmg.40.5.e62
PMCID: PMC1735484

Provenance

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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Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.PMID 12746416Read ↗

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.Semantic proximity Read ↗

Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.Semantic proximity Read ↗

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

Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.Semantic proximity Read ↗

Phenotypic variability of the cat eye syndrome. Case report and review of the literature.Semantic proximity Read ↗

The 22q11.2 Deletion SyndromeSemantic proximity Read ↗

Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome.Semantic proximity Read ↗

Developmental perspectives on copy number abnormalities of the 22q11.2 region.Semantic proximity Read ↗

Partial duplication of the long arm of chromosome 22 (22q 13) with complete 22 trisomy phenotype.Semantic proximity Read ↗

22q11.2 deletion syndrome: introduction.Semantic proximity Read ↗

Mosaic cat eye syndrome in a child with unilateral iris coloboma.Semantic proximity Read ↗

Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.Semantic proximity Read ↗

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