Skip to main content
  • Poster presentation
  • Open access
  • Published:

The use of fluorescence in situhybridization techniques in the detection of microdeletion syndromes


Microdeletion syndromes are a heterogenous group of disorder caused by the deletion of specific regions of chromosomal DNA causing haplo insufficiencies for important genes [1]. These deletions are difficult to visualize using standard cytogenetic techniques. Fluorescence in situ hybridization (FISH) can resolve these submicroscopic deletions to a lower limit of approximately 3MB and has therefore become the method of choice for the diagnosis of these disorders. Deoxyribonucleic acid (DNA) FISH probes can be used in metaphase and interphase cells to detect these specific regions of deletion probes [2]. The region deleted is known as typically deleted region (TDR) or critical region. There are different microdeletion syndromes such as Prader-Willi/Angelman syndrome, William’s, DiGeorge, Smith- Magenis and Miller-Dieker syndromes. Of these, FISH probes for Prader-Willi /Angelman, William’s and DiGeorge syndromes are currently available in our laboratory. This study aimed to compare between cultured and uncultured peripheral blood using Fluorescence in situ hybridization technique for the detection of microdeletion syndromes and to study the concordance rate between the two methods.

Materials and methods

In the current study, 50 subjects clinically diagnosed as patients of microdeletion syndromes were collected randomly from different ages. Peripheral blood containing lymphocytic cells was cultured for 72 hours using culture media in the presence of phytohemagglutinin (PHA) to provide sufficient metaphase nuclei for analysis. After culturing and harvesting the metaphases, slide preparation and FISH techniques assay were performed.


The result of both cultured and uncultured FISH showed that out of 50 patients, 6 were positive and 44 were negative for microdeletion syndrome. In the case of Praderwilli/Angelman syndrome out of 21 patients, all (100%) gave negative result. In the case of DiGeorge syndrome out of 19 cases, 2(10%) gave positive result and the rest 17(90%) gave negative result. For William’s syndrome out of total 10 cases, 4(40%) gave positive result and 6 (60%) gave negative result.


In conclusion, interphase from uncultured FISH is rapid, reliable, cost effective and shows same result as metaphase from culture FISH. The interphase FISH is especially suitable for medical urgent cases.


  1. Koolen D, Vissers L, et al: A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics. 2006, 38: 999-1001.

    Article  CAS  PubMed  Google Scholar 

  2. Nicholls R, Knoll J, et al: Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature Genetics. 1989, 342: 281-285.

    CAS  Google Scholar 

Download references

Author information

Authors and Affiliations


Corresponding author

Correspondence to Muna M ALmughamsi.

Rights and permissions

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 (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Reprints and permissions

About this article

Cite this article

ALmughamsi, M.M., Kumosani, T.A., ALhamzi, E.A. et al. The use of fluorescence in situhybridization techniques in the detection of microdeletion syndromes. BMC Genomics 15 (Suppl 2), P60 (2014).

Download citation

  • Published:

  • DOI: