Detection of microdeletion syndromes using Fluorescence in situ hybridization in Thais
Keywords:
Fluorescence in situ Hybridization (FISH), microdeletion, DiGeorge/velocardiofacial syndrome, Williams syndrome, Prader Willi/Angelman syndromeAbstract
Microdeletion syndromes are a collection of genetic disorders that are associated with very small deletions on certain chromosomes, which may not be detected by conventional karyotyping. However, these microdeletions can be detected by the Fluorescence in situ hybridization (FISH). Total of 427 cases with suspected microdeletion syndromes (DiGeorge/Velocardiofacial syndrome, Williams syndrome and PraderWilli/Angelman syndrome were 306, 67 and 54 cases, respectively) in Ramathibodi Hospital during 2010-2014 were detected by FISH using the specific probes. Out of 427 samples, we found that 84 (19.7%) were positive for microdeletion syndromes. Among of these, 41 (48.8%) were DiGeorge/velocardiofacial syndrome, 30 (35.7%) were Williams syndrome and 13 (15.5%) were PraderWilli/Angelman syndrome. These results indicated that any of 3 microdeletion syndromes can be diagnosed by FISH technology which provides prognostic information for patients and their parents, as the genes responsible for the phenotypic aspects of various microdeletion syndromes are identified.
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