Syndromology
The syndromology ( Greek σύνδρομος , from συν ~, syn ~ : together ~, with ~ as well as δρόμος, drómos : the way, the run and Greek λόγος “teaching”, “sense”, “speech”, “reason”) is teaching of the syndromes and as such part of the research into the pathogenesis and etiology of various clinical pictures .
Clinical and Molecular Syndromology in Genetics
Clinical and molecular syndromology as a branch of genetics deals with the correlation of genetic factors and the severity of malformation or retardation syndromes (mental or physical developmental delays) and primarily includes dysmorphology .
From the characteristic combination of certain malformations or anomalies, conclusions can be drawn about the underlying developmental disorder. If the cause is suspected to be a change in a known genetic make-up, attempts can be made to confirm this by means of a genetic analysis , usually from blood cells . Findings about the causes of a malformation or illness enable, on the one hand, a better assessment of the course of the illness and the necessary diagnostic support (control examinations), on the other hand, they can provide information about whether and with what probability the illness can recur in the family. If a genetic disposition for a certain developmental disorder is still unknown, but there are several affected people in the family, an attempt can be made to identify the genetic disposition responsible as part of a family examination.
history
Johann Friedrich Meckel the Younger is considered the founder of syndromology; As early as 1822, as part of his research on the Meckel syndrome, he had postulated heredity as the cause of many anomalies occurring in families .
Individual evidence
- ↑ University of Vienna newsletter in the academic year 2004/05, p. 20, pdf ( page no longer available , search in web archives ) Info: The link was automatically marked as defective. Please check the link according to the instructions and then remove this notice. ; last viewed on April 23, 2009
- ↑ Research report of the Medical Faculty Erlangen 2004 - 2006, p. 133, pdf ( page no longer available , search in web archives ) Info: The link was automatically marked as defective. Please check the link according to the instructions and then remove this notice. ; last viewed on April 23, 2009
- ↑ a b Syndromology in the Human Genetics Institute of the University Hospital Erlangen Website ( memento of the original from September 19, 2015 in the Internet Archive ) Info: The archive link was automatically inserted and not yet checked. Please check the original and archive link according to the instructions and then remove this notice.
- ↑ Göbbel L .: Pathomorphological investigations and screening of aDNA sequences for the detection of aneuploidies in human atological specimens from the Meckel collections , 2008, p. 54, abstract and 8th theses (pdf; 56 kB) ; last viewed on April 23, 2009
