Turner’s Syndrome (nondisjunction) Female inherits only one X chromosome Karyotype: 45, X Women are sterile, sex organs do not develop at puberty. Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome in men resulting in a karyotype of 47, XXY. Klinefelter syndrome: It is caused by the extra X chromosome that is present in the germ chromosome. A link with level of disability. The primary features are infertility and small poorly functioning testicles. See our User Agreement and Privacy Policy. Children with Down’s syndrome need to be explicitly taught the difference between the two, so it’s good to start early. All Rights Reserved. Get the latest from JAMA Internal Medicine. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. Arch Intern Med. 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. 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 … Thus, it can be represented as 2n-1. Klinefelter syndrome is caused when a male baby is born with more than required or extra X chromosomes. 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. 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. KLINEFELTER SYNDROME It is the state of male hypogonadism due to 2 or more X chromosome with 1 or more y chromosome. Start studying Down's Syndrome, Klinefelter's syndrome, Phenylketonuria (PKU). 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. AND Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. (iii) Trisomy of chromosome 21, open mouth, projecting lower lip … They will continue to make steady progress and continue learning throughout life if given the opportunity to do so. Turner syndrome is a chromosomal disorder that affects only females. For example, some people may confuse the term Klinefelter's syndrome with Down syndrome, a condition resulting in mild to moderate mental retardation. 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. Down syndrome affects people of all economic, educational, cultural, ethnic and racial categories. It involves a lack of part or all of a second sex chromosome in some or all cells. Now customize the name of a clipboard to store your clips. When an individual has a different chromosomal content in his/her cells, it is … (ii) Klinefelter’s Syndrome results 47 chromosomes and is a sterile male, obesity , mental retardation. to download free article PDFs, Both down syndrome and klinefelter syndrome somatic cells contain 47 chromosomes. You can change your ad preferences anytime. Down syndrome is one of the most common genetic disorders. Males with Klinefelter syndrome frequently have trouble finding the right word to describe an object or a situation. 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. They may have special medical problems of the heart, stomach, eyes, and other parts of the body. ... You do not "get" Down's syndrome. Related Questions. For most people with Down syndrome, this anomaly causes a host of distinctive physical characteristics as well as potential health and medical problems. Klinefelter Syndrome Symptoms. Instead of havin… Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Both her mother and her father have normal vision. 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. He had the following history: The second of four children, he was born following an uncomplicated pregnancy and delivery. Clipping is a handy way to collect important slides you want to go back to later. 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. View Essay - Discussion Board 1.docx from RNSG 1311 at Mountain View College. Learn vocabulary, terms, and more with flashcards, games, and other study tools. These are named either X or Y. Our website uses cookies to enhance your experience. Be the first to answer! TRISOMY 21- DOWN SYNDROME This eMedTV selection takes a closer look at this genetic condition, including its causes, symptoms, treatment options, and more. Introduction. (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. 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). Down's syndrome is usually caused by an extra chromosome on the 21st pair, resulting in 47 chromosomes. Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome. It is represented as 2n+1. 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. Aneuploidy can be seen in human as genetic disorders; for example, Tuner syndrome, Klinefelter syndrome and Down syndrome, whereas polyploidy is common in plants. KLINEFELTER’S SYNDROME 12. Approximately 2–3% of patients with Down's syndrome are mosaic with a normal cell line. A woman with Turner syndrome is found to be colorblind (an X-linked recessive phenotype). 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. 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. 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. 1. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Children with Down syndrome have varying developmental delays and medical problems. Parents and teachers can help them build vocabulary through a variety of techniques. People with translocation Down syndrome still share the same health issues and learning problems with people with other types of Down Syndrome. 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. 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. Patient Summary  In addition, the features of this condition vary and can overlap significantly with those of other conditions. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. Among the most common correlates of chromosomal abnormalities, such as Down syndrome and Klinefelter syndrome, is: mother's age. Aneuploidy can be seen in human as genetic disorders; for example, Tuner syndrome, Klinefelter syndrome and Down syndrome, whereas polyploidy is common in plants. Down syndrome was first described by Dr John Langdon Down in 1866. If you continue browsing the site, you agree to the use of cookies on this website. Even though down syndrome is more common it is autosomal not sex chromosome based. It involves a lack of part or all of a second sex chromosome in some or all cells. Individuals with this syndromes are phenotypically males but with tendency towards femaleness. 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. Dr. Talbott was a medical student with an elective in reproductive endocrinology, Montefiore Hospital. (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 … 4 Two of the patients were adults, and these men had obvious phenotypic … Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome in men resulting in a karyotype of 47, XXY. From the Department of Medicine, Montefiore Hospital (Drs. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. 5. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Turner syndrome is an example of monosomy while Down syndrome is an example of trisomy. In this condition, there is missin… Nankin, Talbott, Oshima, Fan, and Troen), and the Department of Radiation Medicine, Presbyterian-University Hospital, University of Pittsburgh School of Medicine (Dr. Pan). 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. #Klinefelter Syndrome. 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. Tell your child exactly … KLINEFELTER’S SYNDROME Down syndrome is a genetic disorder in which there is an extra full or partial chromosome 21. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. 4. All Rights Reserved. Sometimes, this mutation is … 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. The most obvious features of KS are caused by testosterone deficiency and include elevated levels of gonadotropins, small testes, hypogonadism and gynecomastia. klinefelters 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. 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. One difference between sperm cells and ova is that: ova carry an X chromosome, whereas sperm carry either an X or a Y chromosome. Physical Symptoms. There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. 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. Down syndrome can affect how a person looks and thinks, and it's sometimes linked with other health problems, as well. 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. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. By continuing to use our site, or clicking "Continue," you are agreeing to our, 2020 American Medical Association. Instead of splitting cleanly into the two identical chromosomes, the newly divided chromosome will have extra genetic material. 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). INCIDENCE : 1 in 2000 live male births KARYOTYPE: 82% have classical 47,XXY 15% mosaics , 46XY/47,XXY Remaining polysomic individuals 13. 0 0 1. Children with Down’s syndrome sometimes struggle to understand the difference between public and private behaviour. Klinefelter Syndrome (XXY Syndrome) Klinefelter syndrome, also known as XXY syndrome, is a condition affecting males caused by an additional X chromosome. 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. 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. The probability of having a child with Down's syndrome increases with the age of the parents. No public clipboards found for this slide. Individuals with this syndromes are phenotypically males but with tendency towards femaleness. One way is to provide them with synonyms, such as pointing out that a car is also called an automobile. Klinefelter’s syndrome (nondisjunction) Males receive an extra X chromosome Karyotype: 47, XXY The extra X chromosome interferes with meiosis and prevents ind. 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