Microdeletion syndrome
From Infogalactic: the planetary knowledge core
Microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2-5 Mb).[1][2] Detection is done by fluorescence in situ hybridization (FISH). Larger chromosomal deletion syndromes are detectable using karyotyping techniques
Examples
- DiGeorge syndrome or velocardiofacial syndrome[3] - most common microdeletion syndrome
- Prader–Willi syndrome[4][5]
- Angelman syndrome[4]
- Neurofibromatosis type 1[6]
- Neurofibromatosis type II[7][8]
- Williams syndrome[9]
- Miller–Dieker syndrome[10]
- Smith–Magenis syndrome[11]
- Rubinstein–Taybi syndrome[12]
- Wolf–Hirschhorn syndrome[13]
Management
No cure is available for these genetically inherited disorders. Genetic counseling is required.
References
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Further reading
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- Microdeletions and Molecular Genetics
- Microdeletion syndromes (chromosomes 1 to 11) on UpToDate
- List of 100 microdeletion/duplication syndromes detected by array-CGH on GENOMA
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- 13 chromosomal disorders you may not have heard of
