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Article

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

Annales de genetique - 1 Jan 1994

Tupler R, Hoeller A, Pezzolo A, Maraschio P

Abstract excerpt

Cytogenetic analysis in a male child with dismorphies and renal anomalies showed an extra bisatellited chromosome. In situ hybridization and an analysis of cytogenetic polymorphisms revealed that the abnormal chromosome derived from a single maternal chromosome 22.

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Source

Identifiers

PMID: 7847799

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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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.PMID 7847799Read ↗

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A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.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 ↗

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

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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 ↗

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