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Article

Phenotypic variability of Cat-Eye syndrome.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2001

Berends M J, Tan-Sindhunata G, Leegte B, van Essen A J

Abstract excerpt

Cat-Eye syndrome (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and anal atresia are the best known. CES is cytogenetically characterised by the presence of an extra bisatellited marker chromosome, which represents an inverted dicentric duplication of a part of chromosome 22 (inv dup(22)). We report on three CES-patients who carry an inv dup(22)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 11332976

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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