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Article

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

European journal of medical genetics - 1 Jan 2000

Gijsbers Antoinet C J, Bosch Cathy A J, Dauwerse Johannes G, Giromus Osdilly, Hansson Kerstin, Hilhorst-Hofstee Yvonne, Kriek Marjolein, van Haeringen Arie, Bijlsma Emilia K, Bakker Egbert, Breuning Martijn H, Ruivenkamp Claudia A L

Abstract excerpt

Apparently balanced chromosome abnormalities are occasionally associated with mental retardation (MR). These balanced rearrangements may disrupt genes. However, the phenotype may also be caused by small abnormalities present at the breakpoints or elsewhere in the genome. Conventional karyotyping is not instrumental for detecting small abnormalities because it only identifies genomic imbalances larger than 5-10...

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Share to Abnormalities, Multiple
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 20542150
DOI: 10.1016/j.ejmg.2010.06.003

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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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