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Article

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

European journal of medical genetics - 1 Jan 2000

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler H M

Abstract excerpt

Chromosomal rearrangements involving the (sub)telomeres are an important cause of human genetic diseases: with the development of advanced molecular cytogenetic methods they have been identified as a major cause of mental retardation and/or congenital malformation syndromes. We identified a cryptic unbalanced de novo translocation 10p/13q by subtelomere FISH in a boy with mental and growth retardation (karyotype:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16905374
DOI: 10.1016/j.ejmg.2006.06.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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