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Article

Intrachromosomal triplication of distal 7p.

Journal of medical genetics - 1 Jan 1998

Rivera H, Bobadilla L, Rolon A, Kunz J, Crolla J A

Abstract excerpt

A female infant who died at 2 years of age with growth and psychomotor retardation, wide anterior fontanelle, downward slanting palpebral fissures, large, simple ears, joint dislocation/contractures, recurrent infections, and severe pulmonary hypertension was found to have a de novo 7p+ chromosom...

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Source

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Identifiers

PMID: 9475103
DOI: 10.1136/jmg.35.1.78
PMCID: PMC1051195

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9475103-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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