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Article

Mosaic deletion of 20pter due to rescue by somatic recombination.

American journal of medical genetics. Part A - 1 Jan 2016

Martin Megan M, Vanzo Rena J, Sdano Mallory R, Baxter Adrianne L, South Sarah T

Abstract excerpt

We report on a unique case of a mosaic 20pter-p13 deletion due to a somatic repair event identified by allele differentiating single nucleotide polymorphism (SNP) probes on chromosomal microarray. Small terminal deletions of 20p have been reported in a few individuals and appear to result in a variable phenotype. This patient was a 24-month-old female who presented with failure to thrive and speech delay....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26436922
DOI: 10.1002/ajmg.a.37407

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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