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Article

Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q.

Clinical genetics - 1 May 1992

Genuardi M, Flamia R, Palka G, Parruti G, Neri G

Abstract excerpt

We report on a new case of trisomy for the distal portion of chromosome 5q, arising from a maternal balanced translocation, t(5;22)(q33;q13). The patient presented with mental retardation and peculiar craniofacial anomalies, similar to those already described in trisomy 5q3. Overall, the phenotype bore some resemblance to that of the Brachmann-De Lange syndrome. The extent of the duplicated region was...

Topics

Adolescent
Chromosome Mapping
Chromosomes, Human, Pair 5
Colony-Stimulating Factors
DNA Probes
Humans
Karyotyping
Male
Multigene Family
Phenotype
Receptors, Colony-Stimulating Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Trisomy

Source

Identifiers

PMID: 1606715
DOI: 10.1111/j.1399-0004.1992.tb03677.x

Genes

CSF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1606715-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q.PMID 1606715Read ↗

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