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Microdeletion syndrome

Syndrome caused by chromosomal deletion

Amicrodeletion 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[edit]

• DiGeorge syndrome or velocardiofacial syndrome^[3] – most common microdeletion syndrome
• Prader–Willi syndrome^[4][5]
• Angelman syndrome^[4]
• Neurofibromatosis type I^[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]

References[edit]

Further reading[edit]

• H. William Taeusch; Roberta A. Ballard; Christine A. Gleason; Mary Ellen Avery (2005). Avery's Diseases of the Newborn. Elsevier Health Sciences. pp. 210–215. ISBN 0-7216-9347-4.
• Microdeletions and Molecular Genetics
• Microdeletion syndromes (chromosomes 1 to 11) on UpToDate
• List of 100 microdeletion/duplication syndromes detected by array-CGH Archived 2021-06-29 at the Wayback Machine on GENOMA
• Schwartz, Stuart; Graf, Michael D. (Sep 13, 2002). "Ch 19. Microdeletion Syndromes: Characteristics and Diagnosis". Molecular Cytogenetics : Protocols and Applications. Methods in Molecular Biology. Vol. 204. pp. 275–290. doi:10.1385/1-59259-300-3:275. PMID 12397804.
• Vissers, LE; Stankiewicz, P (2012). "Microdeletion and Microduplication Syndromes". Genomic Structural Variants. Methods in Molecular Biology. Vol. 838. pp. 29–75. doi:10.1007/978-1-61779-507-7_2. ISBN 978-1-61779-506-0. PMID 22228006.
• Slavotinek, Anne (2012). "Microdeletion Syndromes". eLS. doi:10.1002/9780470015902.a0005549.pub2. ISBN 978-0470016176.
• 13 chromosomal disorders you may not have heard of