Microdeletion syndrome

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

↑ 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.
↑ "Microdeletion syndrome". Genetics Home Reference. April 17, 2014. Retrieved 19 April 2014.
↑ Shaikh, TH; Kurahashi, H; Saitta, SC; O'Hare, AM; Hu, P; Roe, BA; Driscoll, DA; McDonald-McGinn, DM; Zackai, EH; Budarf, ML; Emanuel, BS (1 March 2000). "Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.". Human Molecular Genetics 9 (4): 489–501. doi:10.1093/hmg/9.4.489. PMID 10699172.
1 2 Buiting, K; Saitoh, S; Gross, S; Dittrich, B; Schwartz, S; Nicholls, RD; Horsthemke, B (April 1995). "Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.". Nature Genetics 9 (4): 395–400. doi:10.1038/ng0495-395. PMID 7795645.
↑ Runte, M; Varon, R; Horn, D; Horsthemke, B; Buiting, K (February 2005). "Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.". Human Genetics 116 (3): 228–30. doi:10.1007/s00439-004-1219-2. PMID 15565282.
↑ Pasmant, E; Sabbagh, A; Spurlock, G; Laurendeau, I; Grillo, E; Hamel, MJ; Martin, L; Barbarot, S; Leheup, B; Rodriguez, D; Lacombe, D; Dollfus, H; Pasquier, L; Isidor, B; Ferkal, S; Soulier, J; Sanson, M; Dieux-Coeslier, A; Bièche, I; Parfait, B; Vidaud, M; Wolkenstein, P; Upadhyaya, M; Vidaud, D; members of the NF France, Network (June 2010). "NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.". Human Mutation 31 (6): E1506–18. doi:10.1002/humu.21271. PMID 20513137.
↑ Rouleau, GA; Merel, P; Lutchman, M; Sanson, M; Zucman, J; Marineau, C; Hoang-Xuan, K; Demczuk, S; Desmaze, C; Plougastel, B (10 June 1993). "Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.". Nature 363 (6429): 515–21. doi:10.1038/363515a0. PMID 8379998.
↑ Beck, Megan; Peterson, Jess F.; McConnell, Juliann; McGuire, Marianne; Asato, Miya; Losee, Joseph E.; Surti, Urvashi; Madan-Khetarpal, Suneeta; Rajkovic, Aleksandar; Yatsenko, Svetlana A. (May 2015). "Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the gene". American Journal of Medical Genetics Part A 167 (5): 1047–1053. doi:10.1002/ajmg.a.36839.
↑ Tassabehji, M; Metcalfe, K; Karmiloff-Smith, A; Carette, MJ; Grant, J; Dennis, N; Reardon, W; Splitt, M; Read, AP; Donnai, D (January 1999). "Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.". American Journal of Human Genetics 64 (1): 118–25. doi:10.1086/302214. PMID 9915950.
↑ Huang, HC; Bautista, SL; Chen, BS; Chang, KP; Chen, YJ; Wuu, SW (1996). "Miller-Dieker syndrome with microdeletion of chromosome 17p13.3: report of one case.". Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 38 (6): 472–6. PMID 9473821.
↑ Bi, W; Yan, J; Stankiewicz, P; Park, SS; Walz, K; Boerkoel, CF; Potocki, L; Shaffer, LG; Devriendt, K; Nowaczyk, MJ; Inoue, K; Lupski, JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.". Genome Research 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186594. PMID 11997338.
↑ Wójcik, C; Volz, K; Ranola, M; Kitch, K; Karim, T; O'Neil, J; Smith, J; Torres-Martinez, W (February 2010). "Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?". American journal of medical genetics. Part A 152A (2): 479–83. doi:10.1002/ajmg.a.33303. PMID 20101707.
↑ Rauch, A; Schellmoser, S; Kraus, C; Dörr, HG; Trautmann, U; Altherr, MR; Pfeiffer, RA; Reis, A (1 April 2001). "First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.". American Journal of Medical Genetics 99 (4): 338–42. doi:10.1002/ajmg.1203. PMID 11252005.

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 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 204. pp. 275–290. doi:10.1385/1-59259-300-3:275.
Vissers, LE; Stankiewicz, P (2012). "Microdeletion and microduplication syndromes.". Methods in molecular biology (Clifton, N.J.) 838: 29–75. doi:10.1007/978-1-61779-507-7_2. PMID 22228006.
Slavotinek, Anne. Microdeletion Syndromes. doi:10.1002/9780470015902.a0005549.pub2.
13 chromosomal disorders you may not have heard of

Mutation

Mechanisms of mutation

Insertion
Deletion
Substitution
- Transversion
- Transition

Mutation with respect to structure

Point mutation	Nonsense mutation Missense mutation Silent mutation Frameshift mutation Dynamic mutation

Large-scale mutation	Chromosomal translocations Chromosomal inversions

Mutation with respect to overall fitness

Chromosome abnormalities (Q90–Q99, 758)

Autosomal

Trisomies	Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Warkany syndrome 2 8 Cat eye syndrome/Trisomy 22 22 Trisomy 16

Monosomies/deletions	1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome 1 Wolf–Hirschhorn syndrome 4 Cri du chat/Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome/Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome/Prader–Willi syndrome (15) Distal 18q-/Proximal 18q-

X/Y linked

Monosomy	Turner syndrome (45,X)

Trisomy/tetrasomy, other karyotypes/mosaics	Klinefelter syndrome (47,XXY) 48,XXYY 48,XXXY 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) 48,XXXX 49,XXXXX 47,XYY 48,XYYY 49,XYYYY 45,X/46,XY

Translocations

Leukemia/lymphoma

Lymphoid	Burkitt's lymphoma t(8 MYC;14 IGH) Follicular lymphoma t(14 IGH;18 BCL2) Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH) Anaplastic large-cell lymphoma t(2 ALK;5 NPM1) Acute lymphoblastic leukemia

Myeloid	Philadelphia chromosome t(9 ABL; 22 BCR) Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1) Acute promyelocytic leukemia t(15 PML,17 RARA) Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)

Other

Ewing's sarcoma t(11 FLI1; 22 EWS)
Synovial sarcoma t(x SYT;18 SSX)
Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
Myxoid liposarcoma t(12 DDIT3; 16 FUS)
Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)

Other

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Microdeletion syndrome

Examples

Management

References

Further reading