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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 hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The...

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Source

Identifiers

PMID: 7717422
DOI: 10.1002/ajmg.1320550214

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

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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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