KLINEFELTER SYNDROME It is the state of male hypogonadism due to 2 or more X chromosome with 1 or more y chromosome. A white man aged 19 years 3 months was referred because of underdeveloped testes, incomplete sexual maturation, and obesity. Learn vocabulary, terms, and more with flashcards, games, and other study tools. When an individual has a different chromosomal content in his/her cells, it is … Approximately 2–3% of patients with Down's syndrome are mosaic with a normal cell line. Dermatoglyphic comparisons have been carried out between 55 patients with Klinefelter’s syndrome (karyotype 47, XXY) and series of 50 control males and 50 control females. In this condition, there is missin… Terms of Use| Children with Down’s syndrome sometimes struggle to understand the difference between public and private behaviour. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. Klinefelter's syndrome is caused by the presence of an additional X chromosome in males and it manifests itself as a disorder of the endocrine system (Zitzmann et al., 2004). Many conditions can occur when a defective gene is inherited. In addition, the features of this condition vary and can overlap significantly with those of other conditions. Klinefelter syndrome is caused when a male baby is born with more than required or extra X chromosomes. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Down syndrome affects people of all economic, educational, cultural, ethnic and racial categories. Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome. a. Examples include trisomy of chromosome 21, the primary cause of Down's Syndrome, inherited X-linked transmissions, and disomies such as Klinefelter's syndrome or monosomies like Turner's syndrome. They will continue to make steady progress and continue learning throughout life if given the opportunity to do so. View Essay - Discussion Board 1.docx from RNSG 1311 at Mountain View College. (i) Down’s Syndrome (Mongolism) • The cause of this genetic disorder-is the presence of an additional copy of the chromosome number 21 (trisomy of 21) due to non-disjunction of chromosomes during sperm or ova … No. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Introduction. Down syndrome can affect how a person looks and thinks, and it's sometimes linked with other health problems, as well. Klinefelter Syndrome Symptoms. Although each syndrome is caused by an abnormal number of chromosomes, or aneuploidy, they are distinct syndromes with learning disabilities and a predisposition toward autoimmune diseases,endocrinologic disorders, and … From this point forward, the error will be repeated and repe… Arch Intern Med. Asked by Wiki User. Klinefelter syndrome can cause sparse facial hair, small testes, and breast development in men. It is suspected that Klinefelter syndrome is underdiagnosed because mild cases may not be identified. Many students with Down syndrome reach Year 12 … All Rights Reserved. In rare instances, a coding error may occur when a cell divides during fetal development. This syndrome is found in 1 out of 1000 males. Nankin, Talbott, Oshima, Fan, and Troen), and the Department of Radiation Medicine, Presbyterian-University Hospital, University of Pittsburgh School of Medicine (Dr. Pan). For most people with Down syndrome, this anomaly causes a host of distinctive physical characteristics as well as potential health and medical problems. Introduction. 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 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. KLINEFELTER’S SYNDROME 12. Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome in men resulting in a karyotype of 47, XXY. Klinefelter Syndrome (XXY Syndrome) Klinefelter syndrome, also known as XXY syndrome, is a condition affecting males caused by an additional X chromosome. Start studying Down's Syndrome, Klinefelter's syndrome, Phenylketonuria (PKU). Males with Klinefelter syndrome frequently have trouble finding the right word to describe an object or a situation. Down syndrome: It is caused by the extra 21 chromosome that is present in an offspring. 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). 1977; Pétremand‐Hyvärinen 1978).Klinefelter's syndrome (KS) is the most common chromosomal abnormality in humans. Often, symptoms are subtle and subjects do not realize they are affected. Most men inherit a single X chromosome from their mother, and a single Y chromosome from their father. According to the Centers for Disease Control and Prevention, it affects about 1 baby in every 700 births. Even though down syndrome is more common it is autosomal not sex chromosome based. These extra genes and DNA cause changes in the development of the embryo and fetus resulting in physical and mental abnormalities. 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. Chromosomes are packages of genes found in every cell in the body. 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. 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. https://patient.info/mens-health/klinefelters-syndrome-leaflet to download free article PDFs, It can be identified at the infant stage but being a deformity of the extra X chromosome. TRISOMY 21- DOWN SYNDROME Patient Summary  What is the fundamental difference between an aneuploidy that might lead to cancer and one that results in Down syndrome? 1. If you continue browsing the site, you agree to the use of cookies on this website. All Rights Reserved. Klinefelter syndrome accounts for 10% to 20% of males attending infertility clinics. KLINEFELTER’S SYNDROME Clipping is a handy way to collect important slides you want to go back to later. #Klinefelter Syndrome. Jsorr 13:52, 8 March 2009 (UTC) Maybe adding language to the text indicating that Down syndrome is the most common extra-chromosome condition, while Klinefelter's is the most common sex-chromosome condition, would be in order. Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence … The published case reports do not always include information on degree of learning disability but in those that have this information, a substantial number of the individuals described with Down syndrome and autism have severe to profound levels of disability. Instead of havin… Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans, where extra genetic material from chromosome 21 is transferred to a newly formed embryo. ... You do not "get" Down's syndrome. Children with Down’s syndrome really benefit from having friends who also have Down’s syndrome and also friends who are typically developing; having a foot in both camps. b. INCIDENCE : 1 in 2000 live male births KARYOTYPE: 82% have classical 47,XXY 15% mosaics , 46XY/47,XXY Remaining polysomic individuals 13. sign up for alerts, and more, to access your subscriptions, sign up for alerts, and more, to download free article PDFs, sign up for alerts, customize your interests, and more, to make a comment, download free article PDFs, sign up for alerts and more, Archives of Neurology & Psychiatry (1919-1959), Subscribe to the JAMA Internal Medicine journal, FDA Approval and Regulation of Pharmaceuticals, 1983-2018, Global Burden of Skin Diseases, 1990-2017, Health Care Spending in the US and Other High-Income Countries, Life Expectancy and Mortality Rates in the United States, 1959-2017, Medical Marketing in the United States, 1997-2016, Practices to Foster Physician Presence and Connection With Patients in the Clinical Encounter, US Burden of Cardiovascular Disease, 1990-2016, US Burden of Neurological Disease, 1990-2017, Waste in the US Health Care System: Estimated Costs and Potential for Savings, Register for email alerts with links to free full-text articles. People with translocation Down syndrome still share the same health issues and learning problems with people with other types of Down Syndrome. Klinefelter syndrome: 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. There is NO correlation between incest and Down syndrome. Describe the difference in the chromosomes of each. (ii) Klinefelter’s Syndrome results 47 chromosomes and is a sterile male, obesity , mental retardation. 1) Understanding Klinefelter Syndrome by Robert Bock printed by NICHD where he plainly says: " I never refer to newborn babies as having Klinefelter's, because they don't have a syndrome," said Arthur Robinson, M.D., a pediatrician at the University of Colorado Medical School in Denver and the director of the NICHD-sponsored study of XXY males. Down syndrome is one of the most common genetic disorders. Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. Looks like you’ve clipped this slide to already. He had the following history: The second of four children, he was born following an uncomplicated pregnancy and delivery. The probability of having a child with Down's syndrome increases with the age of the parents. You can change your ad preferences anytime. Now customize the name of a clipboard to store your clips. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. There are many reports on the relationship between dermatoglyphics and sex chromosome anomalies, including Klinefelter's and Turner's syndromes (Holt and Lindesten 1964; Cushman and Soltan 1969; Shiono et al. Both are trisomies (when someone has three of a certain type of chromosome instead of two), but Klinefelter's is with XXY and Down syndrome is a trisomy of chromosome 21. Our website uses cookies to enhance your experience. This can lead to either a full trisomy (in which a complete third chromosome is created) or a partial trisomy (in which only part of the chromosome is copied). Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) in a parent or very early in fetal development. Klinefelter syndrome results in the formation of sperm or the egg and people with this syndrome are prone to tremors, osteoporosis and autoimmune disorders. For example, some people may confuse the term Klinefelter's syndrome with Down syndrome, a condition resulting in mild to moderate mental retardation. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. 1977; Pétremand‐Hyvärinen 1978).Klinefelter's syndrome (KS) is the most common chromosomal abnormality in humans. A man with Klinefelter syndrome (47, XXY) is red-green color blind, which is an X-linked recessive disorder. Get free access to newly published articles. Children with Down’s syndrome are very good at learning by watching but they may not always take on board the finer points of … There is an excess of male Down syndrome individuals when the extra chromosome 21 is paternal in origin for reasons which are not understood. Trisomy 21 (Down's syndrome) is the most common, and affected individuals have characteristic facial features, growth retardation, intellectual disability, heart defects, and an increased risk of leukemia. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. Sometimes, this mutation is … The main difference between monosomy and trisomy is the type of variation in the chromosome number. 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. For example, lymphocytic leukemia is the result of cells containing 3 sets of chromosome 12. Related Questions. Variants of Klinefelter syndrome (such as 48,XXXY, 49,XXXXY) are much rarer, occurring in 1 in 50,000 to 1 in 85,000 or fewer newborns. 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