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Article

Trisomy 18 mosaicism: report of two cases.

World journal of pediatrics : WJP - 1 May 2013

Banka Siddharth, Metcalfe Kay, Clayton-Smith Jill

Abstract excerpt

BACKGROUND: Mosaic trisomy 18 has a wide phenotypic spectrum ranging from near normal to early death. We report two cases that add to our knowledge of the disease. METHODS: Patient 1 was a girl with a tracheoesophageal fistula, horse-shoe kidneys and a ventricular septal defect. Karyotyping of her lymphocytes showed complete trisomy 18. Due to her milder phenotypes, skin fibroblasts were karyotyped. Patient 2 was...

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Share to Chromosomes, Human, Pair 18
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22105572
DOI: 10.1007/s12519-011-0280-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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