Turner syndrome is the dysgenesis in the female gonads, while Klinefelter syndrome is the male hypogonadism. (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 … We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. 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: TRISOMY 21- DOWN SYNDROME 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). Chromosomes are packages of genes found in every cell in the body. 1. Klinefelter Syndrome (XXY Syndrome) Klinefelter syndrome, also known as XXY syndrome, is a condition affecting males caused by an additional X chromosome. What are differences between klinefelter syndrome and down's syndrome? Turner’s Syndrome (nondisjunction) Female inherits only one X chromosome Karyotype: 45, X Women are sterile, sex organs do not develop at puberty. Tell your child exactly … There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. a. (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. Down syndrome is a genetic disorder in which there is an extra full or partial chromosome 21. For example, lymphocytic leukemia is the result of cells containing 3 sets of chromosome 12. #Klinefelter Syndrome. If you continue browsing the site, you agree to the use of cookies on this website. Down syndrome is one of the most common genetic disorders. For most people with Down syndrome, this anomaly causes a host of distinctive physical characteristics as well as potential health and medical problems. 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 this condition, there is missin… from reproducing. It involves a lack of part or all of a second sex chromosome in some or all cells. It involves a lack of part or all of a second sex chromosome in some or all cells. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. b. ... You do not "get" Down's syndrome. There are varying symptoms and degrees of severity which may occur in males with Klinefelter syndrome. Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome. Males with Klinefelter syndrome frequently have trouble finding the right word to describe an object or a situation. Explore more: Klinefelter syndrome 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. 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. 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). Klinefelter syndrome results in the formation of sperm or the egg and people with this syndrome are prone to tremors, osteoporosis and autoimmune disorders. Individuals with this syndromes are phenotypically males but with tendency towards femaleness. See more ideas about Genetic disorders, Syndrome, Klinefelter syndrome. 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. It can be identified at the infant stage but being a deformity of the extra X chromosome. 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. Aneuploidy can be seen in human as genetic disorders; for example, Tuner syndrome, Klinefelter syndrome and Down syndrome, whereas polyploidy is common in plants. One difference between sperm cells and ova is that: ova carry an X chromosome, whereas sperm carry either an X or a Y chromosome. Get the latest from JAMA Internal Medicine. 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. You can change your ad preferences anytime. Even though down syndrome is more common it is autosomal not sex chromosome based. Men with Klinefelter syndrome typically produce little testosterone, resulting in … Children with Down’s syndrome are very good at learning by watching but they may not always take on board the finer points of … They will continue to make steady progress and continue learning throughout life if given the opportunity to do so. 5. Approximately 2–3% of patients with Down's syndrome are mosaic with a normal cell line. He had the following history: The second of four children, he was born following an uncomplicated pregnancy and delivery. Sometimes, this mutation is … Children with Down syndrome have varying developmental delays and medical problems. KLINEFELTER’S SYNDROME 12. Klinefelter’s syndrome (nondisjunction) Males receive an extra X chromosome Karyotype: 47, XXY The extra X chromosome interferes with meiosis and prevents ind. A man with Klinefelter syndrome (47, XXY) is red-green color blind, which is an X-linked recessive disorder. Thus, it can be represented as 2n-1. Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome in men resulting in a karyotype of 47, XXY. Turner syndrome is a chromosomal disorder that affects only females. One way is to provide them with synonyms, such as pointing out that a car is also called an automobile. Klinefelter syndrome accounts for 10% to 20% of males attending infertility clinics. © 2020 American Medical Association. Among the most common correlates of chromosomal abnormalities, such as Down syndrome and Klinefelter syndrome, is: mother's age. INCIDENCE : 1 in 2000 live male births KARYOTYPE: 82% have classical 47,XXY 15% mosaics , 46XY/47,XXY Remaining polysomic individuals 13. Asked by Wiki User. 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. It results from an unequal sharing of sex chromosomes soon after fertilization. doi:10.1001/archinte.1974.00320200162024. Klinefelter syndrome: It is caused by the extra X chromosome that is present in the germ chromosome. 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. Clipping is a handy way to collect important slides you want to go back to later. All Rights Reserved. It is represented as 2n+1. Start studying Down's Syndrome, Klinefelter's syndrome, Phenylketonuria (PKU). These are named either X or Y. Customize your JAMA Network experience by selecting one or more topics from the list below. 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. 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. Klinefelter syndrome is caused when a male baby is born with more than required or extra X chromosomes. Terms of Use| 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). Instead of havin… Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. 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). However, males with Klinefelter syndrome can often have more than one extra X chromosome. The probability of having a child with Down's syndrome increases with the age of the parents. Answer. According to the Centers for Disease Control and Prevention, it affects about 1 baby in every 700 births. Accessibility Statement. 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. Parents and teachers can help them build vocabulary through a variety of techniques. 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 Some parents have found that grandparents, aunts, uncles-and even extended family members-are more supportive when given accurate information. © 2020 American Medical Association. 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. Some men with Klinefelter syndrome may 3, 4, … Patient Summary  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 … Many conditions can occur when a defective gene is inherited. They may have special medical problems of the heart, stomach, eyes, and other parts of the body. 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. Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome. 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. A link with level of disability. Most men inherit a single X chromosome from their mother, and a single Y chromosome from their father. Introduction. Be the first to answer! 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. Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome in men resulting in a karyotype of 47, XXY. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. This eMedTV selection takes a closer look at this genetic condition, including its causes, symptoms, treatment options, and more. 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. All Rights Reserved. The main difference between monosomy and trisomy is the type of variation in the chromosome number. See our User Agreement and Privacy Policy. Down syndrome affects people of all economic, educational, cultural, ethnic and racial categories. Down syndrome or Mongolism is autosomal disorder and turner and klinefelter's syndrome are sex chromosomal disorder caused due to non disjunction. (iii) Trisomy of chromosome 21, open mouth, projecting lower lip … There is NO correlation between incest and Down syndrome. No. This extra genetic material causes the developmental changes and physical features of Down syndrome. Both her mother and her father have normal vision. Others may prefer to reveal the diagnosis early. 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. See our Privacy Policy and User Agreement for details. Introduction. Many students with Down syndrome reach Year 12 … People with translocation Down syndrome still share the same health issues and learning problems with people with other types of 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. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Klinefelter syndrome can cause sparse facial hair, small testes, and breast development in men. Dr. Talbott was a medical student with an elective in reproductive endocrinology, Montefiore Hospital. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. When an individual has a different chromosomal content in his/her cells, it is … 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. The primary features are infertility and small poorly functioning testicles. Arch Intern Med. The most obvious features of KS are caused by testosterone deficiency and include elevated levels of gonadotropins, small testes, hypogonadism and gynecomastia. In rare instances, a coding error may occur when a cell divides during fetal development. A white man aged 19 years 3 months was referred because of underdeveloped testes, incomplete sexual maturation, and obesity. In addition, the features of this condition vary and can overlap significantly with those of other conditions. From this point forward, the error will be repeated and repe… 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. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Get free access to newly published articles. Reference: 1.“Monosomy.” From the Department of Medicine, Montefiore Hospital (Drs. 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. Physical Symptoms. 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). They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. These extra genes and DNA cause changes in the development of the embryo and fetus resulting in physical and mental abnormalities. For example, some people may confuse the term Klinefelter's syndrome with Down syndrome, a condition resulting in mild to moderate mental retardation. Often, symptoms are subtle and subjects do not realize they are affected. 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. It can be identified at the infant stage but being a deformity of the extra X chromosome. By continuing to use our site, or clicking "Continue," you are agreeing to our, 2020 American Medical Association. Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is where boys and men are born with an extra X chromosome. Turner syndrome is an example of monosomy while Down syndrome is an example of trisomy. 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 … Individuals with this syndromes are phenotypically males but with tendency towards femaleness. 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. Privacy Policy| 4 Two of the patients were adults, and these men had obvious phenotypic … Down syndrome was first described by Dr John Langdon Down in 1866. 0 0 1. There is an excess of male Down syndrome individuals when the extra chromosome 21 is paternal in origin for reasons which are not understood. 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