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Article

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

European journal of medical genetics - 1 Jan 2000

Bisgaard Anne-Marie, Kirchhoff Maria, Nielsen Jens Erik, Brandt Carsten, Hove Hanne, Jepsen Birgit, Jensen Tim, Ullmann Reinhard, Skovby Flemming

Abstract excerpt

Knowing the origin of cytogenetic abnormalities detected in individuals with mental retardation and dysmorphic features is essential to genetic counselling of affected families. To illustrate this, we report on six families with transmitted cytogenetic abnormalities and discuss the genotype-phenotype correlations, including the possibility of the abnormalities being normal genomic variants. The abnormalities were...

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Source

Identifiers

PMID: 17531565
DOI: 10.1016/j.ejmg.2007.03.004

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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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