The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Prenatal diagnosis by FISH of a 22q11 deletion in two families.

We report on prenatal diagnosis by FISH of a sporadic 22q11 deletion associated with DiGeorge syndrome ( DGS) in two fetuses after an obstetric ultrasonographic examination detected cardiac anomalies, an interrupted aortic arch in case 1 and tetralogy of Fallot in case 2. The parents decided to terminate the pregnancies. At necropsy, fetal examination showed characteristic facial dysmorphism associated with congenital malformations, confirming full DGS in both fetuses. In addition to the 22q11 deletion, trisomy X was found in the second fetus and a reciprocal balanced translocation t(11;22) (q23;q11) was found in the clinically normal father of case 1. These findings highlight the importance of performing traditional cytogenetic analysis and FISH in pregnancies with a high risk of having a deletion.[1]

References

  1. Prenatal diagnosis by FISH of a 22q11 deletion in two families. Portnoï, M.F., Joyé, N., Gonzales, M., Demczuk, S., Fermont, L., Gaillard, G., Bercau, G., Morlier, G., Taillemite, J.L. J. Med. Genet. (1998) [Pubmed]
 
WikiGenes - Universities