Hans Olsson1,2 Agneta Jansson3 Birgitta Holmlund3 Cecilia Gunnarsson2,4 1Molecular and Immunological Pathology, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden; 2Department of Clinical Pathology and Clinical Genetics, Östergötland County Council, Linköping, Sweden; 3Division of Oncology, Department of Clinical and Experimenta...

Acknowledgements: The additional participating principal investigators of the Amsterdam BHD working group were Marianne A. Jonker (Dept of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam the Netherlands), Arjan C. Houweling (Dept of Clinical Genetics, VU University Medical Center), Quinten Waisfisz (Dept of Clinical Genetics, VU University Medical Center), Johannes J.P. ...

DEFINITIONS OF CELLULAR ONCOGENES ................................................ c-onc’s: The Proto-Oncogenic Progenitors of Retroviral Oncogenes . . . . . . . . . . . . . . . . . . . Identification of Cellular Oncogenes by Functional Tests for Dominant Mutations Using Genetic Rearrangements to Identify Oncogenes.. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Proviral...

The human major histocompatibility complex HLA is located on the short arm of chromosome 6. It is known to be the most polymorphic genetic system in humans. The biological role of the HLA class I and class II molecules is to present processed peptide antigens. The HLA system is clinically important as transplantation antigens. Molecular HLA allele typing is routinely performed to provide HLA cl...

This book is part of a series called Fundamental and Clinical Aspects of Internal Medicine, a series of volumes for a postgraduate course. Short chapters cover the subjects of cytogenetics, mendelian genetics, genetic markers, multifactorial inheritance, biochemical genetics, genetics of cancer, and treatment of genetic disease. It attempts to be a fairly comprehensive resource for clinicians w...

This book is part of a series called Fundamental and Clinical Aspects of Internal Medicine, a series of volumes for a postgraduate course. Short chapters cover the subjects of cytogenetics, mendelian genetics, genetic markers, multifactorial inheritance, biochemical genetics, genetics of cancer, and treatment of genetic disease. It attempts to be a fairly comprehensive resource for clinicians w...

Recent findings have led to major advances in our understanding of genetics and pathophysiology of hereditary hemochromatosis. Many crucial genes and molecules have come to light, and the complex interrelationships between them are being studied. However, several questions still remain unanswered. Availability of genotyping has changed the approach to diagnosis, and serum markers hold promise f...

Developmental delay in child with deletion of chromosome 13. Chromosomal abnormalities are generally associated with multiple congenital malformations and mental retardation. Children with more than one physical abnormality, particularly if retarded, should therefore undergo chromosomal analysis as part of their investigation. Chromosomal disorders are incurable but can be reliably detected by ...

Treacher Collins syndrome: abnormal first branchial arch development giving rise to malar and mandibular hypoplasia with external ear malformations. Dysmorphology is the study of malformations arising from abnormal embryogenesis. Recognition of patterns of multiple congenital malformations may allow inferences to be made about the timing, mechanism, and aetiology of structural defects. Animal r...