When be cat eye syndrome discovered? Who discovered it?
O and does anyone know any links with perfect pictures of people next to CES?
The first association of the common abnormality common to CES be established over 100 years ago (1898) by Haab, and first described in association next to a small marker chromosome contained by 1965 by Schachenmann. A first report of a familial tisomy 22 pter-->q11happened in 1972 by Buhler et al. Early reports of Cat Eye Syndrome discuss the possibility of chromosome 13 involvement. Now, CES is considered to be present beside the chromosome 22 trisomy findings.
22q11.2 is a very unstable region of chromosome 22, which is involved within other syndromes, such as 22q11 deletion ( a microdeletion of that area of the chromosome) and supernumerary der(22) syndrome, also certain as trisomy 22 or partial trisomy 11/22.
pictures can be found at