复旦大学：《医学遗传学 Medical Genetics》课程教学资源（PPT课件讲稿）14 畸变染色体引起的疾病 chromosomal disorder

Medical Genetics 14畸变染色体引起的疾病 chromosomal disorder

Medical Genetics 14 畸变染色体引起的疾病 chromosomal disorder

Medical Genetics Any syndrome characterized by malformations or malfunctions in any of the body's systems, and caused by abnormal chromosome number or constitution

Medical Genetics Any syndrome characterized by malformations or malfunctions in any of the body's systems, and caused by abnormal chromosome number or constitution

Medical Genetics

Medical Genetics

Medical Genetics 1 Down syndrome A, A Brief History The formal story began in 1866 when a physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other children With mental retardation

Medical Genetics 1. Down syndrome A. A Brief History The formal story began in 1866, when a physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other children with mental retardation

Medical Genetics Down was superintendent of an asylum for children with mental retardation in Surrey, england when he made the first distinction between children who were cretins (later to be found to have hypothyroidism) and what he referred to as Mongoloids

Medical Genetics Down was superintendent of an asylum for children with mental retardation in Surrey, England when he made the first distinction between children who were cretins (later to be found to have hypothyroidism) and what he referred to as "Mongoloids

Medical Genetics Down based this unfortunate name on his notion that these children looked like people from have an arrested developmen en to Mongolia who were thought the

Medical Genetics Down based this unfortunate name on his notion that these children looked like people from Mongolia, who were thought then to have an arrested development

Medical Genetics This ethnic insult came under fire in the early 1960s from Asian genetic researchers, and the term was dropped from scientific use, instead the condition became called "downs syndrome. In the 1970s, an American revision of scientific terms changed it simply to"Down syndrome, while it still is called Downs in the UK and some places in Europe

Medical Genetics This ethnic insult came under fire in the early 1960s from Asian genetic researchers, and the term was dropped from scientific use. Instead, the condition became called "Down's syndrome." In the 1970s, an American revision of scientific terms changed it simply to "Down syndrome," while it still is called "Down's" in the UK and some places in Europe

Medical Genetics In the first part of the twentieth century, there was much speculation of the cause of down syndrome. The first people to speculate that it might be due to chromosomal abnormalities were Waardenburg and Bleyer in the 1930s

Medical Genetics In the first part of the twentieth century, there was much speculation of the cause of Down syndrome. The first people to speculate that it might be due to chromosomal abnormalities were Waardenburg and Bleyer in the 1930s

Medical Genetics But it wasn't until 1959 that Jerome Lejeune and Patricia Jacobs, working independently ′rst determined the cause to be trisomy (triplication) of the 21st chromosome Cases of Down syndrome due to translocation and mosaicism were described over the next three years

Medical Genetics But it wasn't until 1959 that Jerome Lejeune and Patricia Jacobs, working independently, first determined the cause to be trisomy (triplication) of the 21st chromosome. Cases of Down syndrome due to translocation and mosaicism were described over the next three years

Medical Genetics B The chromosomes There are three different types of Down syndrome: Standard Trisomy 21, Translocation and mosaicism

Medical Genetics B. The Chromosomes There are three different types of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism