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Article

Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor.

American journal of medical genetics - 31 Jul 2000

Karanjawala Z E, Kääriäinen H, Ghosh S, Tannenbaum J, Martin C, Ally D, Tuomilehto J, Valle T, Collins F S

Abstract excerpt

Uniparental disomy (UPD) is a condition in which diploid individuals possess a chromosome pair from a single parent. In some instances, UPD causes an abnormal phenotype due to imprinting effects, reduction to homozygosity at recessive disease loci, or trisomy mosaicism. Here we report the first account of an individual with apparently nonmosaic complete maternal isodisomy of chromosome 8. This individual was...

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Identifiers

PMID: 10925383
DOI: 10.1002/1096-8628(20000731)93:3<207::aid-ajmg9>3.0.co;2-a

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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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