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Review
. 2015;88(3):288-92.
doi: 10.15386/cjmed-461. Epub 2015 Jul 1.

Genetic testing in patients with global developmental delay / intellectual disabilities. A review

Diana Miclea  1 , Loredana Peca  2 , Zina Cuzmici  1 , Ioan Victor Pop  1
Affiliations
Review

Genetic testing in patients with global developmental delay / intellectual disabilities. A review

Diana Miclea et al. Clujul Med. 2015.

Abstract

Genetic factors are responsible for up to 40% developmental disability cases, such as global developmental delay/intellectual disability (GDD/DI). The American and more recently the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI.

Keywords: CGH array; X fragile syndrome; genetic testing; global developmental delay; intellectual disabilities.

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Figures

Figure 1
Figure 1
Assessment protocol for genetic testing in patients with GDD/ID diagnosis [10].
See this image and copyright information in PMC

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