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Article

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8.

American journal of medical genetics - 15 Apr 1994

Barber J C, James R S, Patch C, Temple I K

Abstract excerpt

We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic suspicion of a simultaneous deletion of the tip of the short arm and indicated the maternal origin of the abnormality. This deletion made no detectable contribution to the phenotype of the patient which was comparable to that of previous cases of 8p duplication. Similar...

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Identifiers

PMID: 8042676
DOI: 10.1002/ajmg.1320500315

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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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