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Article

Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.

American journal of medical genetics - 2 Oct 2000

Moog U, Engelen J J, Albrechts J C, Baars L G, de Die-Smulders C E

Abstract excerpt

We describe a family with direct transmission of a duplication of 8p12-->8p21.1. The phenotype of affected relatives included mild mental retardation but no minor anomalies. The duplication was identified by means of GTG-banding and fluorescence in situ hybridization with a probe specific for 8p12 generated by microdissection and degenerate oligonucleotide primed-polymerase chain reaction. Assay of glutathione...

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Source

Identifiers

PMID: 11038444
DOI: 10.1002/1096-8628(20001002)94:4<306::aid-ajmg8>3.0.co;2-v

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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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