2p15-16.1 microdeletion

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2p15-16.1 microdeletion is a genetic disorder first described[1][2][3]in 2007. It is caused by a loss (deletion) of a small segment on the short arm of chromosome 2.


[edit] References

  1. ^ Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hurlburt J, Hildebrand J, Mickelson EC, Holden JJ, Lewis ME (2007). "Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.". J Med Genet. 44 (4): 269-76. PMID 16963482. 
  2. ^ de Leeuw N, Pfundt R, Koolen DA, Neefs I, Scheltinga I, Mieloo H, Sistermans EA, Nillesen W, Smeets DF, de Vries BB, Knoers NV (2008). "A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis". J Med Genet. 45 (2): 122-4. PMID 18245392. 
  3. ^ Chabchoub E, Vermeesch JR, de Ravel T, de Cock P, Fryns JP. (2008). "The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15". J Med Genet. 45 (3): 189-92. PMID 18310269. 

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