Diagnosing Cat-Eye syndrome via ‘visual diagnosis’

New research study ongoing directed by Dr. Thomas Liehr of the Jena Institute of Human Genetics in Jena, Germany to learn if diagnosing Cat-Eye syndrome via visual diagnosis is possible.

In individuals with Cat-Eye syndrome, the short arm and a small region of the long arm of chromosome 22 (i.e., 22pter-22q11) are present four times (partial tetrasomy) rather than twice in cells of the body. In a small number of people with Cat-Eye syndrome, the 22q11 region is present in 3 copies (partial trisomy). The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals. This defect, known as a coloboma, usually appears as a cleft or gap in the iris below the pupil, and the elongated pupil therefore resembles the appearance of a cat’s eye.

From researcher Dr. Liehr: As you know, it is often difficult to provide a diagnosis for a young patient with some clinical signs and symptoms of a genetic disorder. The easiest way would be if one could do a kind of computer-aided ‘visual diagnosis’. This has already been done successfully by our group with patients with Emanual and Pallister-Killian Syndromes. A new research project is currently underway at the Institute of Human Genetics in Jena with regard to Cat-Eye syndrome and we ask for your help. Our team is looking for families willing to provide portrait photos of their children diagnosed with Cat-Eye syndrome. The great thing is that the contributors can determine who can see the original photos, because ultimately every photo is digitally processed and broken down into non-visual data. The aim of this project is to record typical facial features of all Cat-Eye syndrome patients, and only this anonymized data is used for later inquiries. In short – patient anonymity is guaranteed 100%. Further information can be found under the link below and everyone can register there and upload pictures. It is also possible to send me pictures directly that I add to the system. https://fs27.formsite.com/Face2Gene/fvshgv9vv0/index.html

Thank you for your consideration.

Dr. Thomas Liehr Universitätsklinikum Jena Institut für Humangenetik Address: Am Klinikum 1, Haus F2, Ebene 20, 07747 Jena, Germany

Chromosome Disorder Outreach Inc. does not endorse or recommend any research, medical therapy, treatment, physician or medical provider. This is offered for informational purposes only.

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