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Article

5p14 deletion associated with microcephaly and seizures.

Journal of medical genetics - 1 Feb 2000

Johnson E I, Marinescu R C, Punnett H H, Tenenholz B, Overhauser J

Abstract excerpt

We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence in situ hybridisation (FISH). The deletion in this present family is smaller than a deletion previously described...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 10662813
DOI: 10.1136/jmg.37.2.125
PMCID: PMC1734514

Provenance

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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