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Article

An adult patient with a distal interstitial 14q deletion: clinical report and literature review.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2000

Spruijt L, Van Der Blij-Philipsen M, Engelen J J, Schrander-Stumpel C T

Abstract excerpt

We report a patient with an interstitial 14q32.1-->q32.3 deletion and review the literature. The adult patient presented with moderate mental retardation, a friendly behavior and a non-specific phenotype. The deletion seemed to be terminal but with FISH probes appeared to be interstitial. Comparison with other 14q terminal and interstitial deletion patients reported in literature and those with a ring 14...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 11140410

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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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