INCIDENCE : 1 in 2000 live male births KARYOTYPE: 82% have classical 47,XXY 15% mosaics , 46XY/47,XXY Remaining polysomic individuals 13. It results from an unequal sharing of sex chromosomes soon after fertilization. #Klinefelter Syndrome. Turner syndrome is the dysgenesis in the female gonads, while Klinefelter syndrome is the male hypogonadism. Turner’s Syndrome (nondisjunction) Female inherits only one X chromosome Karyotype: 45, X Women are sterile, sex organs do not develop at puberty. These extra genes and DNA cause changes in the development of the embryo and fetus resulting in physical and mental abnormalities. This eMedTV selection takes a closer look at this genetic condition, including its causes, symptoms, treatment options, and more. Down syndrome or Mongolism is autosomal disorder and turner and klinefelter's syndrome are sex chromosomal disorder caused due to non disjunction. It is represented as 2n+1. A man with Klinefelter syndrome (47, XXY) is red-green color blind, which is an X-linked recessive disorder. For example, some people may confuse the term Klinefelter's syndrome with Down syndrome, a condition resulting in mild to moderate mental retardation. The primary features are infertility and small poorly functioning testicles. Arch Intern Med. Aneuploidy can be seen in human as genetic disorders; for example, Tuner syndrome, Klinefelter syndrome and Down syndrome, whereas polyploidy is common in plants. Turner syndrome is a chromosomal disorder that affects only females. In trisomy, an additional chromosome is present in the genome. Customize your JAMA Network experience by selecting one or more topics from the list below. They will continue to make steady progress and continue learning throughout life if given the opportunity to do so. It can affect physical and mental development. doi:10.1001/archinte.1974.00320200162024. 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Down syndrome is one of the most common genetic disorders. Explore more: Klinefelter syndrome KLINEFELTER’S SYNDROME Men with Klinefelter syndrome typically produce little testosterone, resulting in … https://patient.info/mens-health/klinefelters-syndrome-leaflet Explain the difference between Down Syndrome, Turner Syndrome and Klinefelter Syndrome. Oct 2, 2019 - Explore Fatima hussain's board "project ideas .." on Pinterest. 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 and the most common autosomal chromosome abnormality in humans, where extra genetic material from chromosome 21 is transferred to a newly formed embryo. In 1959, Down syndrome was shown to be associated with an extra chromosome in the G group1; Klinefelter syndrome was associated with an extra X chromosome2; and a case of double aneuploidy, a 48,XXY,G + male, was reported.3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy.4 Two of the patients were adults, and these men had obvious phenotypic abnormalities. Klinefelter syndrome can cause sparse facial hair, small testes, and breast development in men. Individuals with this syndromes are phenotypically males but with tendency towards femaleness. (i) Turner’s Syndrome results from the union of an abnormal (o) egg with a normal X sperm or a normal X egg and abnormal (o) sperm. Terms of Use| Reference: 1.“Monosomy.” Describe the difference in the chromosomes of each. It can be identified at the infant stage but being a deformity of the extra X chromosome. Children with Down’s syndrome sometimes struggle to understand the difference between public and private behaviour. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. to download free article PDFs, Accessibility Statement. 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 … 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. Related Questions. 5. 1977; Pétremand‐Hyvärinen 1978).Klinefelter's syndrome (KS) is the most common chromosomal abnormality in humans. 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. A diagnosis of Klinefelter syndrome most often implies that a male has two X chromosomes and one Y chromosome. There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. Parents and teachers can help them build vocabulary through a variety of techniques. Aneuploidy can be seen in human as genetic disorders; for example, Tuner syndrome, Klinefelter syndrome and Down syndrome, whereas polyploidy is common in plants. 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). Get free access to newly published articles. There is NO correlation between incest and Down syndrome. (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 … AND down syndrome . 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. By continuing to use our site, or clicking "Continue," you are agreeing to our, 2020 American Medical Association. 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. No. This syndrome is found in 1 out of 1000 males. Klinefelter Syndrome (XXY Syndrome) Klinefelter syndrome, also known as XXY syndrome, is a condition affecting males caused by an additional X chromosome. It can be identified at the infant stage but being a deformity of the extra X chromosome. It involves a lack of part or all of a second sex chromosome in some or all cells. Turner syndrome is a chromosomal disorder that affects only females. (iii) Trisomy of chromosome 21, open mouth, projecting lower lip … Among the most common correlates of chromosomal abnormalities, such as Down syndrome and Klinefelter syndrome, is: mother's age. When an individual has a different chromosomal content in his/her cells, it is … Turner syndrome is an example of monosomy while Down syndrome is an example of trisomy. See our Privacy Policy and User Agreement for details. 4. People with Down syndrome do not plateau or stop learning new skills in their teenage or adult years. Both down syndrome and klinefelter syndrome somatic cells contain 47 chromosomes. Many conditions can occur when a defective gene is inherited. Down's syndrome is usually caused by an extra chromosome on the 21st pair, resulting in 47 chromosomes. pathology seminar mbbs student. Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome in men resulting in a karyotype of 47, XXY. These are named either X or Y. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. 1. Both her mother and her father have normal vision. In Turner syndrome, an individual does not have the usual pair of two complete X chromosomes.The most common scenario is that a girl has only one X chromosome in all of her cells.However, some girls with Turner syndrome have a full or partial absence of the X chromosome in only some of their cells. 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. Get the latest from JAMA Internal Medicine. He had the following history: The second of four children, he was born following an uncomplicated pregnancy and delivery. Some parents have found that grandparents, aunts, uncles-and even extended family members-are more supportive when given accurate information. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. The increased susceptibility to autoimmunity in Turner's syndrome, Down's syndrome, Klinefelter's syndrome is by mechanisms that are not entirely clear but likely to involve an interaction between genetic predisposition, impairment in peripheral or central tolerance, and exposure to environmental factors. Down syndrome was first described by Dr John Langdon Down in 1866. Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome. 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. Include gender, musculoskeletal Chromosomes are packages of genes found in every cell in the body. Klinefelter Syndrome Symptoms. © 2020 American Medical Association. You can change your ad preferences anytime. People with translocation Down syndrome still share the same health issues and learning problems with people with other types of Down Syndrome. Often, symptoms are subtle and subjects do not realize they are affected. 0 0 1. Individuals with this syndromes are phenotypically males but with tendency towards femaleness. According to the Centers for Disease Control and Prevention, it affects about 1 baby in every 700 births. Instead of havin… Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. 25 Mental retardation is a feature in a small percentage of patients with Klinefelter syndrome, as indicated by the increased prevalence of males with X chromatin among residents of institutions for the mentally retarded, compared to the general population. Answer. Key Difference – Klinefelter vs Turner Syndrome Klinefelter syndrome is defined as the male hypogonadism that occurs when there are two or more X chromosomes and two or more Y chromosomes. 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. Post hoc t-tests examining the differences within each group between looking-times to the matching and non-matching stimuli revealed significant differences in all groups, but to a lesser extent in the Down syndrome group (Williams syndrome t(14) = 4.65, p < .0001; Down syndrome t(20) =3.21, p < .004; mental age-control t(15) = 4.06, p < .001; chronological age-control t(16) = 6.41, p < .0001). All Rights Reserved. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. In rare instances, a coding error may occur when a cell divides during fetal development. 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. Patient Summary  Now customize the name of a clipboard to store your clips. Dr. Talbott was a medical student with an elective in reproductive endocrinology, Montefiore Hospital. Klinefelter syndrome is caused when a male baby is born with more than required or extra X chromosomes. The main difference between monosomy and trisomy is the type of variation in the chromosome number. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. KLINEFELTER SYNDROME It is the state of male hypogonadism due to 2 or more X chromosome with 1 or more y chromosome. ... You do not "get" Down's syndrome. Even though down syndrome is more common it is autosomal not sex chromosome based. Turner syndrome is the complete or partial monosomy of the X chromosome, which is characterized primarily by the hypogonadism in phenotypic females. Children with Down’s syndrome need to be explicitly taught the difference between the two, so it’s good to start early. If you continue browsing the site, you agree to the use of cookies on this website. It is suspected that Klinefelter syndrome is underdiagnosed because mild cases may not be identified. 4 Two of the patients were adults, and these men had obvious phenotypic … Down syndrome is a genetic disorder in which there is an extra full or partial chromosome 21. By : SEJWAL MADHUR KUMAR. One way is to provide them with synonyms, such as pointing out that a car is also called an automobile. Asked by Wiki User. 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. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. a. 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 … For most people with Down syndrome, this anomaly causes a host of distinctive physical characteristics as well as potential health and medical problems. If you continue browsing the site, you agree to the use of cookies on this website. The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives. 1974;134(2):352–358. Males with Klinefelter syndrome frequently have trouble finding the right word to describe an object or a situation. Others may prefer to reveal the diagnosis early. From this point forward, the error will be repeated and repe… There is an excess of male Down syndrome individuals when the extra chromosome 21 is paternal in origin for reasons which are not understood. Klinefelter syndrome accounts for 10% to 20% of males attending infertility clinics. May 9, 2013 - Genetic inheritance means that an individual has a certain traits passed down from their parents. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Nankin, Talbott, Oshima, Fan, and Troen), and the Department of Radiation Medicine, Presbyterian-University Hospital, University of Pittsburgh School of Medicine (Dr. Pan). Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome in men resulting in a karyotype of 47, XXY. The most obvious features of KS are caused by testosterone deficiency and include elevated levels of gonadotropins, small testes, hypogonadism and gynecomastia. Some men with Klinefelter syndrome may 3, 4, … Children with Down syndrome have varying developmental delays and medical problems. In addition, the features of this condition vary and can overlap significantly with those of other conditions. © 2020 American Medical Association. Be the first to answer! Learn vocabulary, terms, and more with flashcards, games, and other study tools. He had the following history: The second of four children, he was born following an uncomplicated pregnancy and delivery. Physical Symptoms. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. This extra genetic material causes the developmental changes and physical features of Down syndrome. Start studying Down's Syndrome, Klinefelter's syndrome, Phenylketonuria (PKU). Children with Down’s syndrome are very good at learning by watching but they may not always take on board the finer points of … 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. Privacy Policy| 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. Explain the simultaneous origin of Turner syndrome and color blindness by the abnormal behavior of chromosomes at meiosis. A white man aged 19 years 3 months was referred because of underdeveloped testes, incomplete sexual maturation, and obesity. What are differences between klinefelter syndrome and down's syndrome? We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. A woman with Turner syndrome is found to be colorblind (an X-linked recessive phenotype). TRISOMY 21- DOWN SYNDROME Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome. However, males with Klinefelter syndrome can often have more than one extra X chromosome. Klinefelter’s syndrome (nondisjunction) Males receive an extra X chromosome Karyotype: 47, XXY The extra X chromosome interferes with meiosis and prevents ind. It involves a lack of part or all of a second sex chromosome in some or all cells. No public clipboards found for this slide. 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. Our website uses cookies to enhance your experience. Looks like you’ve clipped this slide to already. Tell your child exactly … Introduction. b. klinefelters syndrome . 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. from reproducing. Klinefelter syndrome: It is caused by the extra X chromosome that is present in the germ chromosome. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. (ii) Klinefelter’s Syndrome results 47 chromosomes and is a sterile male, obesity , mental retardation. 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. 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. A link with level of disability. 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. See more ideas about Genetic disorders, Syndrome, Klinefelter syndrome. Clipping is a handy way to collect important slides you want to go back to later. Down syndrome can affect how a person looks and thinks, and it's sometimes linked with other health problems, as well. 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. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. LAB DIAGNOSIS N INVESTIGATION OF DIABETES MELLITUS. They may have special medical problems of the heart, stomach, eyes, and other parts of the body. 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). Thus, it can be represented as 2n-1. View Essay - Discussion Board 1.docx from RNSG 1311 at Mountain View College. KLINEFELTER’S SYNDROME 12. Approximately 2–3% of patients with Down's syndrome are mosaic with a normal cell line. 1977; Pétremand‐Hyvärinen 1978).Klinefelter's syndrome (KS) is the most common chromosomal abnormality in humans. Sometimes, this mutation is … Down syndrome affects people of all economic, educational, cultural, ethnic and racial categories. Introduction. Many students with Down syndrome reach Year 12 … Klinefelter's syndrome co-exists in 0.25% as a result of double non-disjunction. XYY syndrome is a genetic condition that occurs when a male has an extra copy of the Y chromosome in each of their cells (XYY). 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. From the Department of Medicine, Montefiore Hospital (Drs. In this condition, there is missin… They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. 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. Down syndrome: It is caused by the extra 21 chromosome that is present in an offspring. All Rights Reserved, 1974;134(2):352-358. doi:10.1001/archinte.1974.00320200162024, A white man aged 19 years 3 months was referred because of underdeveloped testes, incomplete sexual maturation, and obesity. 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. One difference between sperm cells and ova is that: ova carry an X chromosome, whereas sperm carry either an X or a Y chromosome. For example, lymphocytic leukemia is the result of cells containing 3 sets of chromosome 12. All Rights Reserved. Instead of splitting cleanly into the two identical chromosomes, the newly divided chromosome will have extra genetic material. The probability of having a child with Down's syndrome increases with the age of the parents. Klinefelter syndrome results in the formation of sperm or the egg and people with this syndrome are prone to tremors, osteoporosis and autoimmune disorders. See our User Agreement and Privacy Policy. Klinefelter syndrome: What is the fundamental difference between an aneuploidy that might lead to cancer and one that results in Down syndrome? Men with Klinefelter syndrome inherit an extra X chromosome from either father or mother; their karyotype is 47 XXY.Klinefelter is quite common, occuring in 1/500 to 1/1,000 male births. 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). Common physical signs of Down syndrome include 1,2: Decreased or poor muscle tone; Short neck, with excess skin at the back of the neck; Flattened facial profile and nose 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. No correlation between incest and Down 's syndrome increases with the age of the most frequent chromosomal in... 20 % of males attending infertility clinics, ethnic and racial categories can affect how a looks... ) is red-green color blind, which came to be known as klinefelter syndrome.Klinefelter syndrome... Back to later and can overlap significantly with those of other conditions infertility and small testes and prostrate glands ve!, or clicking `` continue, '' you are agreeing to our, 2020 American medical.! To be known as klinefelter syndrome, which is an extra chromosome on 21st... 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