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Abstract

July to September 2020 | Vol. 13 | Issue 3 | 13-26
Microdeletion and Microduplication Syndromes: An Update
Priya Ranganath, Prajnya Ranganath
Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India
Address for Correspondence Email: prajnyaranganath@gmail.com
 
Abstract
Microdeletion and microduplication syndromes (MMS) also known as ‘contiguous gene syndromes’ are a group of disorders caused by sub-microscopic chromosomal deletions or duplications. Most of these conditions are typically associated with developmental delay, autism, multiple congenital anomalies, and characteristic phenotypic features. These chromosomal abnormalities cannot be detected by conventional cytogenetic techniques like karyotyping and require higher resolution ‘molecular cytogenetic’ techniques. The advent of high throughput tests such as chromosomal microarray in the past one or two decades has led to a continuously growing list of microdeletions and microduplication syndromes along with identification of the ‘critical region’ responsible for the main phenotypic features associated with these syndromes. This review discusses the etiopathogenic mechanisms of MMS, some of the common MMS and their clinical features, the diagnostic tools available for their evaluation, and the databases available for analysis and interpretation.
 
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