It involves a lack of part or all of a second sex chromosome in some or all cells. Looks like you’ve clipped this slide to already. Without doing a blood test, it is not possible to tell the difference between people with translocation Down syndrome and people with other types of Down Syndrome. Introduction. A man with Klinefelter syndrome (47, XXY) is red-green color blind, which is an X-linked recessive disorder. Nankin, Talbott, Oshima, Fan, and Troen), and the Department of Radiation Medicine, Presbyterian-University Hospital, University of Pittsburgh School of Medicine (Dr. Pan). Individuals with this syndromes are phenotypically males but with tendency towards femaleness. Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome in men resulting in a karyotype of 47, XXY. These can be explained by saying that both the terms are problems related to the sex chromosomes, as in the earlier one there is lacking of one of the sex chromosomes and so-called as monosomy (2n-1), while the latter consist of the extra sex chromosome and so-called as trisomy (2n+1). A white man aged 19 years 3 months was referred because of underdeveloped testes, incomplete sexual maturation, and obesity. Aneuploidy can be seen in human as genetic disorders; for example, Tuner syndrome, Klinefelter syndrome and Down syndrome, whereas polyploidy is common in plants. Patient Summary  KLINEFELTER’S SYNDROME By continuing to use our site, or clicking "Continue," you are agreeing to our, 2020 American Medical Association. As he grew, obesity and a moderate degree, Nankin HR, Talbott JB, Oshima H, Fan DF, Pan SF, Troen P. Down and Klinefelter Syndromes (48, XXY, G + ) in a Young Man: Cytogenetic, Endocrine, and Testicular Steroidogenesis Studies. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. What is the fundamental difference between an aneuploidy that might lead to cancer and one that results in Down syndrome? Asked by Wiki User. 5. Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome in men resulting in a karyotype of 47, XXY. The probability of having a child with Down's syndrome increases with the age of the parents. See more ideas about Genetic disorders, Syndrome, Klinefelter syndrome. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. Privacy Policy| © 2020 American Medical Association. People with translocation Down syndrome still share the same health issues and learning problems with people with other types of Down Syndrome. Klinefelter syndrome results in the formation of sperm or the egg and people with this syndrome are prone to tremors, osteoporosis and autoimmune disorders. When an individual has a different chromosomal content in his/her cells, it is … 4. Often, symptoms are subtle and subjects do not realize they are affected. For example, some people may confuse the term Klinefelter's syndrome with Down syndrome, a condition resulting in mild to moderate mental retardation. Klinefelter Syndrome (XXY Syndrome) Klinefelter syndrome, also known as XXY syndrome, is a condition affecting males caused by an additional X chromosome. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. This extra genetic material causes the developmental changes and physical features of Down syndrome. Introduction. Thus, it can be represented as 2n-1. Many students with Down syndrome reach Year 12 … Even though down syndrome is more common it is autosomal not sex chromosome based. Oct 2, 2019 - Explore Fatima hussain's board "project ideas .." on Pinterest. Now customize the name of a clipboard to store your clips. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. However, males with Klinefelter syndrome can often have more than one extra X chromosome. Answer. It can be identified at the infant stage but being a deformity of the extra X chromosome. ... You do not "get" Down's syndrome. These extra genes and DNA cause changes in the development of the embryo and fetus resulting in physical and mental abnormalities. All Rights Reserved. See our User Agreement and Privacy Policy. It can affect physical and mental development. A diagnosis of Klinefelter syndrome most often implies that a male has two X chromosomes and one Y chromosome. Both her mother and her father have normal vision. As he grew, obesity and a moderate degree, Challenges in Clinical Electrocardiography, Clinical Implications of Basic Neuroscience, Health Care Economics, Insurance, Payment, Scientific Discovery and the Future of Medicine, United States Preventive Services Task Force. Approximately 2–3% of patients with Down's syndrome are mosaic with a normal cell line. LAB DIAGNOSIS N INVESTIGATION OF DIABETES MELLITUS. If you continue browsing the site, you agree to the use of cookies on this website. The differences between Down syndrome and Klinefelter syndrome are as follows: Down syndrome: It is caused by the extra 21 chromosome that is present in an offspring. In 1959, Down syndrome was shown to be associated with an extra chromosome in the G group 1; Klinefelter syndrome was associated with an extra X chromosome 2; and a case of double aneuploidy, a 48,XXY,G + male, was reported. Down syndrome or Mongolism is autosomal disorder and turner and klinefelter's syndrome are sex chromosomal disorder caused due to non disjunction. They may have special medical problems of the heart, stomach, eyes, and other parts of the body. Down syndrome can affect how a person looks and thinks, and it's sometimes linked with other health problems, as well. INCIDENCE : 1 in 2000 live male births KARYOTYPE: 82% have classical 47,XXY 15% mosaics , 46XY/47,XXY Remaining polysomic individuals 13. He had the following history: The second of four children, he was born following an uncomplicated pregnancy and delivery. Klinefelter’s syndrome (nondisjunction) Males receive an extra X chromosome Karyotype: 47, XXY The extra X chromosome interferes with meiosis and prevents ind. In this condition, there is missin… Both down syndrome and klinefelter syndrome somatic cells contain 47 chromosomes. (iii) Trisomy of chromosome 21, open mouth, projecting lower lip … Many conditions can occur when a defective gene is inherited. We report here results of endocrine, cytogenetic, and in vitro testicular steroidogenesis studies in a 19-year-old man with a 48,XXY,G + chromosome constitution, who lacked many of the classical features of Down or Klinefelter syndromes. Among the most common correlates of chromosomal abnormalities, such as Down syndrome and Klinefelter syndrome, is: mother's age. The main difference between monosomy and trisomy is the type of variation in the chromosome number. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. No. 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. 0 0 1. The manifestations exhibit depending on the number of XXY cells that the male has, the age his condition was diagnosed, and the amount of testosterone in the body. (ii) Klinefelter’s Syndrome results 47 chromosomes and is a sterile male, obesity , mental retardation. Describe the difference in the chromosomes of each. Turner’s Syndrome (nondisjunction) Female inherits only one X chromosome Karyotype: 45, X Women are sterile, sex organs do not develop at puberty. from reproducing. down syndrome . 1. May 9, 2013 - Genetic inheritance means that an individual has a certain traits passed down from their parents. For example, lymphocytic leukemia is the result of cells containing 3 sets of chromosome 12. KLINEFELTER’S SYNDROME 12. The chance a baby with Down syndrome increases with the age of the mother, however, 80 percent of babies with Down syndrome are born to 35 years old or younger women, simply because women in that age group have the most babies. 1977; Pétremand‐Hyvärinen 1978).Klinefelter's syndrome (KS) is the most common chromosomal abnormality in humans. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Between two and four percent of the time, a person is born with Mosaic translocation Down syndrome (mDs) whereby some but not all of the cells have an extra copy of the 21 st chromosome and the other cells are not affected. pathology seminar mbbs student. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. They will continue to make steady progress and continue learning throughout life if given the opportunity to do so. One way is to provide them with synonyms, such as pointing out that a car is also called an automobile. What are differences between klinefelter syndrome and down's syndrome? One difference between sperm cells and ova is that: ova carry an X chromosome, whereas sperm carry either an X or a Y chromosome. See our Privacy Policy and User Agreement for details. Klinefelter syndrome: doi:10.1001/archinte.1974.00320200162024. Start studying Down's Syndrome, Klinefelter's syndrome, Phenylketonuria (PKU). Reference: 1.“Monosomy.” Sometimes, this mutation is … It is suspected that Klinefelter syndrome is underdiagnosed because mild cases may not be identified. Down syndrome was first described by Dr John Langdon Down in 1866. Chromosomes are packages of genes found in every cell in the body. 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