Microdeletion 17q21.31 syndrome

• September 5th, 2006

In the September 2006 issue of Nature Genetics, three groups identify a new microdeletion syndrome (microdeletion 17q21.31). The major clinical features of this syndrome are severe hypotonia and moderate mental retardation
See the News and Views article by James R. Lupski:

Nat Genet. 2006 Sep;38(9):974-6.

Genome structural variation and sporadic disease traits.

Lupski JR.

James R. Lupski is in the Department of Molecular and Human Genetics and the
Department of Pediatrics, Baylor College of Medicine and Texas Children’s
Hospital, Houston, Texas, USA.
See also the artcles by Koolen DA et al., Shaw-Smith C et al. and Sharp J et al.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Mendelian Cytogenetics Network Online Database

• June 2nd, 2006

This fantastic online database collects clinical and cytogenetic data on Disease Associated Balanced Chromosomal Rearrangements. It can be useful in prenatal counselling.
Please visit www.mcndb.org for more information,

Philippe Campeau

The 5th international 22q11.2 deletion syndrome conference

• May 19th, 2006

The 5th international 22q11.2 deletion syndrome conference will take place in Marseillle, France, July 10-11th 2006.

Please visit the website for more information.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator