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Article

A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis.

European journal of medical genetics - 1 Jan 2000

Caliebe Almuth, Martin Subero Jose I, Muhle Hiltrud, Gesk Stefan, Jänig Ute, Krause Martin, Plendl Hansjörg, Stephani Ulrich, Siebert Reiner, Eckmann-Scholz Christel

Abstract excerpt

Interstitial deletions of chromosome 14 have rarely been described. We report on a boy in whom a 2 Mb deletion in 14q13 was discovered by array CGH. The deletion was a de novo event. The boy presented with asymmetrical growth retardation at birth. There was severe developmental delay with muscular hypotonia and focal epilepsy with apneic episodes progressing to serial tonic seizures. At the age of 3 3/12 years he...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Developmental Disabilities

Share to Fatal Outcome

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Lymphohistiocytosis, Hemophagocytic

Source

Identifiers

PMID: 21736959
DOI: 10.1016/j.ejmg.2011.05.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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