Microdeletion syndrome

Microdeletion syndrome is a syndrome caused by a chromosomal deletion (< 5Mb) 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

Management

No cure is available for these genetically inherited disorders. Genetic counseling is required.

References

  1. 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.
  2. "Microdeletion syndrome". Genetics Home Reference. April 17, 2014. Retrieved 19 April 2014.
  3. 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.
  4. 4.0 4.1 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. PMID 7795645.
  5. 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.
  6. 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. PMID 20513137.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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. PMID 20101707.
  13. 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. PMID 11252005.

Further reading