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Article

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

American journal of medical genetics. Part A - 15 Jul 2008

Bélien Valérie, Gérard-Blanluet Marion, Serero Stéphane, Le Dû Nathalie, Baumann Clarisse, Jacquemont Marie-Line, Dupont Céline, Krabchi Kada, Drunat Séverine, Elbez Annie, Janaud Jean-Claude, Benzacken Brigitte, Verloes Alain, Tabet Anne-Claude, Aboura Azzedine

Abstract excerpt

Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the approximately 60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3-month-old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous...

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Share to Abnormalities, Multiple
Share to Aneuploidy

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

Share to Chromosomes, Human, Pair 22

Share to Coloboma

Share to Fetal Growth Retardation

Share to Heart Defects, Congenital

Share to In Situ Hybridization, Fluorescence

Share to Pulmonary Veins

Source

Identifiers

PMID: 18553551
DOI: 10.1002/ajmg.a.32392

Genes

TBX1

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.

Related research

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Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.PMID 18553551Read ↗

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

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

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited casesSemantic proximity Read ↗

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

Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype.Semantic proximity Read ↗

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