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Article

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

American journal of medical genetics. Part A - 1 Dec 2015

Luo Minjie, Mulchandani Surabhi, Dubbs Holly A, Swarr Daniel, Pyle Louise, Zackai Elaine H, Spinner Nancy B, Conlin Laura K

Abstract excerpt

Discordance between clinical phenotype and genotype has multiple causes, including mosaicism. Phenotypes can be modified due to tissue distribution, or the presence of multiple abnormal cell lines with different genomic contributions. We have studied a 20-month-old female whose main phenotypes were failure to thrive, developmental delay, and patchy skin pigmentation. Initial chromosome and SNP microarray analysis...

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Share to Chromosome Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26198585
DOI: 10.1002/ajmg.a.37261
PMCID: PMC4715567

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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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