Article
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.
Cytogenetic and genome research - 1 Jan 2006
de Ravel T J L, Balikova I, Thienpont B, Hannes F, Maas N, Fryns J-P, Devriendt K, Vermeesch J R
Abstract excerpt
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...
Topics
- Adult
- Child
- Child, Preschool
- Chromosome Aberrations
- Computational Biology
- Female
- Genetic Variation
- Genome, Human
- Humans
- Infant
- Intellectual Disability
- Karyotyping
- Male
- Nucleic Acid Hybridization
- Phenotype