2p15-16.1 microdeletion

2p15-16.1 microdeletion is a genetic disorder first describedcite journal |author=Rajcan-Separovic E, Harvard C, Liu X, McGillivray B, Hall JG, Qiao Y, Hurlburt J, Hildebrand J, Mickelson EC, Holden JJ, Lewis ME |title=Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. |journal=J Med Genet. |volume=44 |issue=4 |pages=269-76 |year=2007 |pmid=16963482 |doi=10.1136/jmg.2006.045013] cite journal |author=de Leeuw N, Pfundt R, Koolen DA, Neefs I, Scheltinga I, Mieloo H, Sistermans EA, Nillesen W, Smeets DF, de Vries BB, Knoers NV |title=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 |journal=J Med Genet. |volume=45 |issue=2 |pages=122-4 |year=2008 |pmid=18245392 |doi=10.1136/jmg.2007.054049 ] cite journal |author=Chabchoub E, Vermeesch JR, de Ravel T, de Cock P, Fryns JP. |title=The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15 |journal=J Med Genet. |volume=45 |issue=3 |pages=189-92 |year=2008 |pmid=18310269 |doi=10.1136/jmg.2007.056176] in 2007. It is caused by a loss (deletion) of a small segment on the short arm of chromosome 2.

References

External links

* [http://www.cfri.ca/our_research/researchers/search_researchers/researcher_detail.asp?ID=106 Dr. Evica Rajcan-Separovic]
* [http://www.cfri.ca/our_research/researchers/search_researchers/researcher_detail.asp?ID=77 Dr. Suzanne Lewis]