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Updated: Jun 22, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
B Grisart1, L Willatt, A Destrée
1Centre de Génétique Humaine, Institut de Pathologie et de Génétique, B-6041 Charleroi, Belgium. bernard.grisart@ipg.be
The 17q21.31 duplication syndrome, identified in four patients, presents with intellectual skills ranging from normal to mild mental retardation and autistic features. This genetic condition arises from maternal origin and highlights the role of genomic architecture in its development.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Genomic Imprinting
Background:
- 17q21.31 microdeletions are associated with a known syndrome.
- This study investigates the reciprocal 17q21.31 duplication syndrome.
Purpose of the Study:
- To identify and characterize patients with 17q21.31 duplication syndrome.
- To investigate the origin and genetic factors contributing to the duplication.
Main Methods:
- Comparative genomic hybridization microarray screening of 13,070 patients with mental retardation and congenital malformation.
- Quantitative polymerase chain reaction and microsatellite genotyping for parental origin investigation.
Main Results:
- Four patients with 17q21.31 duplication were identified.
- Intellectual skills varied from normal to mild mental retardation.
- Patients exhibited poor social interaction and autistic spectrum disorder-like features.
- Duplications were of maternal origin, associated with the inverted H2 haplotype, suggesting a role for genomic architecture.
Conclusions:
- Genes within the duplicated 17q21.31 region are potential candidates for autistic spectrum disorders.
- 17q21.31 duplications represent a genomic disorder with variable penetrance and expressivity.
- Maternal inheritance and specific genomic architecture predispose to this duplication.
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