Molekulare Karyotypisierung in der klinischen Anwendung

Microarray technology for the detection of putative pathological submicroscopic copy number variants (CNV) has become a standard tool in the field of molecular cytogenetics in recent years. In addition to the identification of somatic CNVs in tumour genetics this technology is increasingly used for the analysis of constitutional CNVs in patients with developmental delay. Array-based genomic hybridisation increases sensitivity in comparison to more conventional technologies such as comparative genomic hybridisation (CGH). Recent developments now allow a genome-wide detection of submicroscopic chromosomal alterations, deletions and duplications smaller than 100 Kb, thus significantly increasing the detection rate of chromosomal aberrations in patients suffering from idiopathic mental retardation. Several centers are already using array technology in their routine setting in the diagnostic approach to syndromes. Therefore, this overview focuses on the similarities, as well as the differences, of several basic array techniques.     

Molekulare Karyotypisierung in der klinischen Diagnostik

The term “molecular karyotyping” refers to the genome-wide analysis of copy number variations using arrays that cover the genome with genomic markers with varying density. Currently the main application is the investigation of patients with otherwise unexplained mental retardation and multiple congenital anomalies. Studies of such patients who remained without etiological diagnosis after conventional karyotyping, subtelomeric screening, and targeted molecular–cytogenetic studies for well-known microdeletion syndromes revealed chromosomal microaberrations in about 10% of cases and allowed the delineation of several new microdeletion and microduplication syndromes. Nevertheless, because of the large number of copy number polymorphisms, interpretation of unique findings needs thorough consideration.     

Molekulare Karyotypisierung in der genetischen Diagnostik

Molecular karyotyping by array comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays allows for a high resolution scan of the entire genome. It detects gains or losses (copy number variants) that might be the underlying cause of a genetic disorder. This technique is mainly applied to cases with syndromal or non-syndromal impaired (intellectual) development and is used to characterize genetic aberrations of tumor samples. Furthermore, molecular karyotyping might be useful for resolving prenatal cases with abnormal ultrasound findings. The purpose of this article is to explain the basic techniques, their limitations and strengths and to provide an outlook on future prospects.     

Zeitgeschichte der Humangenetik in Deutschland

Together with the German Society for Human Genetics (Deutsche Gesellschaft für Humangenetik, GfH) a team of researchers from the Department for the History, Philosophy, and Ethics of Medicine of Heinrich Heine University Düsseldorf in cooperation with the Department for History of Medicine and Science Studies of the University of Lübeck has begun a research project on the history of human genetics in Germany since the 1970s. We employ the method of oral history to add to printed secondary and primary sources. In this contribution we present the project, its research questions and situate it in the historiography of human genetics in Germany. Approaches to writing contemporary history of medicine and challenges of conducting and analyzing expert interviews are discussed.     

Zahnentwicklung und Zahnanomalien in der Humangenetik

Ohne Zusammenfassung     

Das Rechnen mit Wahrscheinlichkeiten in der Humangenetik

The notation and rules of probability calculus for risk calculations in families and the parameters of Mendelian models are described.     

Das goldene Zeitalter der Humangenetik geht weiter

Ohne Zusammenfassung

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The golden age of human genetics continues

     

Ergebnisse einer Umfrage zur Weiterbildungssituation in der Humangenetik in Deutschland

medizinische genetik - Bisher existieren nur Vermutungen darüber, wie viele Assistenzärzte sich gegenwärtig in der Weiterbildung zum Facharzt für Humangenetik befinden. Die...