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Article

FISH-mapping of a 100-kb terminal 22q13 deletion.

Human genetics - 1 May 2002

Anderlid Britt-Marie, Schoumans Jacqueline, Annerén Göran, Tapia-Paez Isabel, Dumanski Jan, Blennow Elisabeth, Nordenskjöld Magnus

Abstract excerpt

Both cytogenetically visible and cryptic deletions of the terminal region of chromosome 22q are associated with a clinical phenotype including mental retardation, delay in expressive speech development, hypotonia, normal to accelerated growth and minor facial dysmorphic features. The genes responsible for the development of the phenotype have not yet been identified, but a distal localization is probable, since...

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

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PMID: 12073014
DOI: 10.1007/s00439-002-0713-7

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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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