Microdeletion syndrome

Twins in Poland with 22q11 microdeletion syndrome

A 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). Detection is done by fluorescence in situ hybridization (FISH). Larger chromosomal deletion syndromes are detectable using karyotyping techniques.

• DiGeorge syndrome or velocardiofacial syndrome – most common microdeletion syndrome

• Prader–Willi syndrome

• Angelman syndrome

• Neurofibromatosis type I

• Neurofibromatosis type II

• Williams syndrome

• Miller–Dieker syndrome

• Smith–Magenis syndrome

• Rubinstein–Taybi syndrome

• Wolf–Hirschhorn syndrome

• 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