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Article

Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.

American journal of medical genetics - 16 Jan 1995

Knoll J H, Asamoah A, Pletcher B A, Wagstaff J

Abstract excerpt

We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridizat...

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosome Banding
Chromosome Disorders
Chromosomes, Human, Pair 22
Eye Abnormalities
Humans
Infant, Newborn
Male
Multigene Family
Phenotype
Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7717422
DOI: 10.1002/ajmg.1320550214

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7717422-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.PMID 7717422Read ↗

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

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

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

Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst.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 ↗

Clinical and molecular cytogenetic findings of cat eye syndrome and a 2-year-old patient with congenital aural atresia and hearing loss.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 ↗

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndromeSemantic proximity Read ↗

A new case of a severe clinical phenotype of the cat-eye syndrome.Semantic proximity Read ↗

Clinical characteristics of a sample of patients with cat eye syndrome.Semantic proximity Read ↗

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