Small Supernumerary Marker Chromosomes (sSMC): A Guide for Human Geneticists and Clinicians

Description

Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC. Front Matter....Pages i-xx Introduction....Pages 1-15 Inheritance of Small Supernumerary Marker Chromosomes....Pages 17-19 Formation of Small Supernumerary Marker Chromosomes....Pages 21-29 Small Supernumerary Marker Chromosomes in Genetic Diagnostics and Counseling....Pages 31-46 Small Supernumerary Marker Chromosomes Known To Be Correlated with Specific Syndromes....Pages 47-68 Centric Small Supernumerary Marker Chromosomes....Pages 69-150 Neocentric Small Supernumerary Marker Chromosomes by Chromosome....Pages 151-168 Multiple Small Supernumerary Marker Chromosomes....Pages 169-173 Small Supernumerary Marker Chromosomes Additionally to Other Chromosomal Rearrangements....Pages 175-178 Complex Small Supernumerary Marker Chromosomes....Pages 179-179 Small Supernumerary Marker Chromosomes and Tumors....Pages 181-181 Back Matter....Pages 183-220