- Human pathology

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molecular karyotyping

Sunday 4 February 2007


- mental retardation

  • Molecular karyotyping has revealed that microdeletions/duplications in the human genome are a major cause of multiple congenital anomalies associated with mental retardation (MCA/MR).
  • The identification of a de novo chromosomal imbalance in a patient with MCA/MR is usually considered causal for the phenotype while a chromosomal imbalance inherited from a phenotypically normal parent is considered as a benign variation and not related to the disorder.

See also

- tumoral genotyping

  • SNPs tumoral genotyping

- cancer genotyping

  • SNPs cancer genotyping


- Oncobase


- de Ravel TJ, Balikova I, Thienpont B, Hannes F, Maas N, Fryns JP, Devriendt K, Vermeesch JR. Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. Cytogenet Genome Res. 2006;115(3-4):225-30. PMID: 17124404