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Microdeletion syndromes

Molecular Cytogenetics20147(Suppl 1):I13

https://doi.org/10.1186/1755-8166-7-S1-I13

Published: 21 January 2014

Keywords

  • William Syndrome
  • Prader Willi Syndrome
  • Angelman Syndrome
  • Disease Causation
  • Cytogenetic Technique

Microdeletion syndromes are a group of disorders characterized by the deletion of a small chromosomal segment (usually <5 Mb in size) encompassing multiple disease genes, each potentially contributing to the disease phenotype independently. The mechanism of disease causation is usually due to haploinsufficiency of certain critical genes of that region. The genetic changes of these microdeletion syndromes are often not detected by the current band resolution using the routine or high resolution karyotyping (2-5 Mb) but require application of molecular cytogenetic techniques like Fluorescence in-situ Hybridization (FISH) or the latest array CGH technique.

FISH is now the standard technique for the diagnosis of common microdeletion syndromes like Prader Willi syndrome, Angelman syndrome, Velocardiofacial (DiGeorge) syndrome, William syndrome etc. It is also possible to diagnose rare syndromes like Wolf Hirschhorn syndrome, Smith Magenis syndrome etc by FISH if the degree of clinical suspicion is high. With the advent of chromosomal microarrays, detection of newer microdeletion syndromes and better characterization of existing syndromes has become possible.

Authors’ Affiliations

(1)
Sahyadri Genetics, Unit of Sahyadri Hospitals, Pune, India

Copyright

© Datar; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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