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Article

Possible isochromosome 22 leading to trisomy 22.

American journal of medical genetics - 18 Dec 2000

Manasse B F, Pfaffenzeller W M, Gurtunca N, de Ravel T J

Abstract excerpt

We describe the first case of trisomy 22 resulting from a monocentric, possible isochromosome 22. The female infant had multiple anomalies including an abnormal face, ambiguous genitalia, and both ventricular and atrial septal defects. Survival was short.

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Share to Chromosomes, Human, Pair 22
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11146458
DOI: 10.1002/1096-8628(20001218)95:5<411::aid-ajmg1>3.0.co;2-q

Provenance

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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