Clinical Genetics and Population Variation 2008

Submitted: Monday 14th of September 2009 03:02:43 PM
Submitted by: egf
Language: English
Educational levels: No level assigned


The Course on Clinical Genetics and Population VAriation that was held during the 21st course in Medical Genetics. Contains three lectures by: D. Donnai : Basic Concepts in Dysmorphology and Syndrome classification, M. Speicher: Development of technologies for the new cytogenetics, H. Brunner: Chromosomal syndromes


What is dysmorphology? David Smith from the USA first used the term “dysmorphology” in the 1960’s to describe the study of human congenital malformations and patterns of birth defects. The subject is broad, and to be a dysmorphologist one needs to be knowledgeable in many areas, from embryolo ...
There have been recent exciting advances in fluorescence in situ hybridization (FISH) and array-based techniques which are changing the nature of cytogenetics both in basic research and in molecular diagnostics. With these new approaches, cytogenetic analysis now extends beyond the simple descriptio ...
Aneuploid states cause recognizable clinical syndromes that are named after their discoverer (Down syndrome, Wolf-Hirschhorn syndrome etc), after their main clinical symptoms (velacardiofacial syndrome, cri-du-chat syndrome) or after their localization in the genome (1p36 deletion syndrome, 22q11 de ...

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