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Article

A new deletion of 18q23 with few typical features of the 18q- syndrome.

Journal of medical genetics - 1 Mar 1996

Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V

Abstract excerpt

We report on a patient with a deletion of 18q23. At both 2 and 4 years of age, she displayed few of the facial features or other clinical features associated with the 18q- syndrome. Fluorescent in situ hybridisation and microsatellite marker and RFLP analysis were performed to characterise the extent of the deletion, and a terminal deletion of 18q23 was confirmed. The deleted region includes the gene for myelin...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8728701
DOI: 10.1136/jmg.33.3.240
PMCID: PMC1051877

Provenance

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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