Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Klinefelter syndrome is one of the most common chromosome conditions in newborns. Sometimes, parents who are worried about their son’s development consult a doctor, and the diagnosis reveals Klinefelter syndrome. Please enable it to take advantage of the complete set of features! What is it about the extra chromosome inherited in Down syndrome -- chromosome 21 -- that alters brain and body development? in this video we are deal with Chromosomal Disorder and specially with Down syndrome … [Turner and Klinefelter syndromes. 2019 Nov;21(11):2485-2495. doi: 10.1038/s41436-019-0519-9. Some chromosomal disorders occur in the 23, pair, which determines the sex. It is estimated that only 25% of KS males are ever diagnosed due to variable phenotype and possibly insufficient characterisation of the syndrome. Checklists and syndrome-specific growth grids should be used. Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) This condition is associated with much comorbidity and with a lower life expectancy. Individuals with either syndrome have 44 autosomes. 2014 Sep;133(9):1075-82. doi: 10.1007/s00439-014-1448-y. HHS Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Often, symptoms are subtle and subjects do not realize they are affected. Diagnosis of KS and prevention and treatment of its comorbidities keep being a challenge. Introduction. Nat Rev Urol. Symptoms of Klinefelter syndrome. This video is highly rated by NEET students and has been viewed 1119 times. Each individual will still, receive traits from each parent as well as the traits of the defect. Both Klinefelter and Turner syndrome are chromosomal disorders. Although most men with non-mosaic Klinefelter syndrome (KS) have azoospermia [1, 2], it is well established that mature sperm cells can be found in testicular biopsies extracted from at least 40 % of them [].The mechanisms that enable sperm production in non-mosaic KS patients are still unknown, as is the genetic etiology for the presence or absence of sperm cells. It is not anyone’s fault. Some traits included feblemindedness and physically unattractive. Klinefelter’s syndrome arises due to an extra X chromosome. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. The primary features are infertility and small poorly functioning testicles. Many boys and men do not realise they have it. USA.gov. Other conditions can be detected too, but they are much rarer. Treatment may include: Testosterone replacement: About half of people with … PrevalenceBetween 1 in 500 and 1 in 1000 males have Klinefelter syndrome [1]. Down syndr… Which of the following statements about individuals with Klinefelter syndrome or Turner syndrome is FALSE? 4 Two of the patients were adults, and these men had obvious phenotypic … Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Massingham LJ, Johnson KL, Scholl TM, Slonim DK, Wick HC, Bianchi DW. You will be able to access support from a speech therapist or in school if needed. Klinefelter's syndrome is the condition first described in 1942 in which males have an extra X sex chromosome, also known as XXY syndrome. When a diagnosis is made, treatment is based on the signs and symptoms present in each person, especially the problems related to hypogonadism, gynecomastia, and psychosocial problems. This is one of the most common disorders known as Down’s Syndrome or Trisomy 21. Infertility is the most common symptom of Klinefelter syndrome. Aug 31, 2020 - Down's and Klinefelter's Syndrome NEET Video | EduRev is made by best teachers of NEET. 2016 Jun;13(6):309-23. doi: 10.1038/nrurol.2016.62. Klinefelter syndrome (KS) is the most common sex chromosomal disorder with an estimated prevalence of 1 in 500-1000 newborn boys (Lanfranco et al., 2004). The cause of hypogonadism can be attributed to many other different medical conditions. Klinefelter syndrome affects around 1 in every 660 males. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Please like … Which of the following chromosome anomalies can be found in either sex? Double trisomy 48, XXY, +21 or Down-Klinefelter syndrome is a rare occurrence and presents clinical manifestation of trisomy 21 in early life and of Klinefelter syndrome after 10 months of age. What causes Klinefelter syndrome? Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Researchers have new evidence that points to the protein SNX27.  |  Course Hero is not sponsored or endorsed by any college or university. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Possible features, which are not always present, may include: Often, symptoms are subtle and subjects do not realize they are affected. It affects between 1 in 500 and 1 in 1,000 newborn males. Often, symptoms are subtle and subjects do not realize they are affected. NIH Men and women were both targets in this practice. Smith, Yolanda. Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. Down's Syndrome and Klinefelter Syndrome .doc - Down\u2019s Syndrome and Klinefelter Syndrome DOWN SYNDROME AND KLINEFELTER SYNDROME Down\u2019s Syndrome and, Both Down’s Syndrome and Klinefelter Syndrome are types of numerical chromosomal, disorders. Some traits included feblemindedness and physically unattractive. Some of the physical characteristics, include small nose and flat nasal bridge, small mouth, outward and upward slanted eyes, flat. Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F. Cochrane Database Syst Rev. Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy with a prevalence of approximately 1 in 650 males. Meaning that men with KS could have been sterilized because of their condition. The incidence and spectrum of cardiovascular anomalies in children born with Down–Klinefelter syndrome is not known. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. The primary features are infertility and small poorly functioning testicles. Turner Syndrome and Klinefelter Syndrome. Klinefelter syndrome is one of the genetic disorders in males. Klinefelter’s syndrome can be detected via prenatal diagnosis. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. 2015 Aug;26(2):411-27. Diagnosis]. The test can also tell you if your unborn baby is male or female. This preview shows page 1 - 4 out of 6 pages. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Your child is lucky to have been diagnosed early. Question 2 options: Down syndrome and Turner syndrome Turner syndrome and sickle-cell anemia Klinefelter syndrome and Down syndrome Phenylketonuria (PKU) and XYY syndrome. 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. She had a look mixed from both … Down syndrome is caused by an extra or part of an extra 21st chromosome while Turner syndrome is caused by an absence in one or part of the sex(X) chromosome.Down syndrome can occur in both … Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. down syndrome . 1999 Jan 15;59(2):381-90, 392, 395-6. Klinefelter syndrome can often be managed through regular checkups, medications, and counseling. Down syndrome, also known as trisomy 21, is a genetic disorder that occurs when a person has a full or partial extra copy of chromosome 21. Meaning that men with KS could have been sterilized because of their condition. Chromosomal disorders| Down syndrome | turner syndrome |klinefelter syndrome |for11th 12th and NEET. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Variants of … Optimal health care requires a thorough knowledge of the unique health risks, psychoeducational needs, functional capabilities, and phenotypic variation associated with each condition. Down’s Syndrome occurs when, the child has an extra chromosome on the 23. pair resulting in 47 chromosomes rather than 46. She was rumored to have a rare genetic disorder which gave her an advantage in sports over the others, but it was later diagnosed as klinefelter’s syndrome. Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes. She won the Olympic Gold medal for her country in the year 2016. This site needs JavaScript to work properly. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. Adult patients with isolated KS may occasionally suffer from mitral valve prolapse. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. 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. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential. This extra chromosome arises from the accidental retention of a chromosome during a non-disjunction event during paternal and maternal Meiosis I (Gametogenesis). COVID-19 is an emerging, rapidly evolving situation. Since Klinefelter syndrome can be hard to notice, many parents don’t know their son has it until he grows up or shows delays in puberty. It is possible to have a trisomy, such as Klinefelter syndrome (XXY) and not be aware. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Symptoms of Klinefelter's Syndrome (XXY) The symptoms that result from an individual who has klinefelter's syndrome are half-normal-sized male sex organs, testes having an absence of spermatozoa, and the male having a possible presence of gynecomastia. Comorbidity landscape of the Danish patient population affected by chromosome abnormalities. Examples of trisomies include: Down syndrome (trisomy 21), and Klinefelter syndrome (XXY). Along with the physical, characteristics displayed, they also will carry developmental issues. Variants of Klinefelter syndrome occur more infrequently; approximately 1 in 50,000 or fewer newborns has a variant of Klinefelter syndrome[2].Most men are diagnosed as adults in the context of male infertility. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. Many KS males are only diagnosed in adult life due to infertility (1). Diagnosis]. Klinefelter syndrome happens at random. pathology seminar mbbs student Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Individuals with either syndrome are both identified as females. 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 cancers. An estimated 53-55% of conceptions affected with Klinefelter syndrome are expected to survive to term.4. The syndrome can affect different stages of physical, language, and social development. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. In some individuals there is an extra chromosome in the 21. pair. The situation for Klinefelter syndrome is not at all cut and dried. The incidence of Klinefelter syndrome is 1 in 1100 while the incidence of Turner syndrome is 1 in 2500. The presence of an extra chromosome can cause higher leve… Men and women were both targets in this practice. Epub 2014 May 22. 1. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. A recent Danish study indicated that Klinfelter syndrome was present in 153 per 100,000 babies tested.3. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. 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. Learn more about the causes, symptoms, and treatment of Klinefelter syndrome. Both syndromes can be identified by a karyotype. In the average human body there are 23 pairs of chromosomes, each coded for a, specific gene and trait. [Turner and Klinefelter syndrome. KS was first described in 1942 as an endocrine disorder.5. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. Two-thirds of affected newborns show a karyotype of 47,XXY. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome. Down syndrome is a trisomy in which there are three 21st chromosomes. 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, … klinefelter syndrome and Down Syndrome. Klinefelter syndrome may affect up to 1 in 500 male births in the world today.2. Hum Genet. Klinefelter syndrome is found in 1 out of 1000 males. Both down syndrome and klinefelter syndrome somatic cells contain 47 chromosomes. Autoimmune diseases can be broadly divided into those affecting mainly one … Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Down syndrome results from: A) the absence of one chromosome in position 21 B) the presence of an extra chromosome in position 21 C) the absence of both chromosomes in position 21 D) crossing over on the chromosomes in position 21 E) none of the above DOWN SYNDROME Most common chromosomal … It can affect physical and mental development. Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in males with KS. Klinefelter syndrome is a fairly common genetic condition found in males only. The most common symptom is infertility . 1 in every, 700 births, the child will be diagnosed with Down’s Syndrome. Chromosomal disorders are not genetic and are typically not passed down from, generation to generation. Primary care of infants and young children with Down syndrome. Which of the following prescription and nonprescription drugs can have harmful effects on an embryo … The differential diagnosis for the Klinefelter syndrome can include the following conditions: fragile X syndrome, Kallmann syndrome and Marfan syndrome. Most commonly (around 82 percent of the time) there is an extra X chromosome (an XXY arrangment.) Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Both _____ are genetic disorders caused by the presence of an extra chromosome. Here at the Johns Hopkins Klinefelter Syndrome Center, we see both adult men and children with this not-uncommon chromosome anomaly—the only such dual center in this country. Many boys with Klinefelter syndrome — also known as XXY syndrome — have no signs or symptoms, and some don't even know they have it until later in life. Epub 2016 Apr 19. Both Prader-Willi and Angelman syndromes can arise from uniparental disomy, which means that both chromosomal homologues are derived from one parent, with no contribution from the other. 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. This causes the male to show feminine characteristics and have both male, and female traits. These two traits that the government stated could be used to describe Klinefelter Syndrome. Few studies have examined the incidence of Klinefelter syndrome in Korea. Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Symptoms. KS is not passed down … In males, there is, chromosome pair in which there are two X’s and one Y know as, Klinefelter Syndrome. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. In addition, it is possible to have a partial trisomy where an extra copy of just part of a chromosome has been inherited. klinefelters syndrome . Cureus. I’ll give you the best answer I can. Is down syndrome, turner syndrome and klinefelter are genetic disorders Ask for details ; Follow Report by AbhishekTale 02.05.2019 Log in to add a comment Select one: a. Turner's Syndrome (XO) b. Klinefelter's Syndrome (XXY) c. Down Syndrome (Trisomy 21) d. Barker's Syndrome e. They all can be found in either sex. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Since in both syndromes, the affected persons are transgender, so it is compulsive to know the differences between both syndromes. Adolesc Med State Art Rev. Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. Support groups and Internet resources can benefit affected individuals and their families immensely. Approximately 5% of Klinefelter syndrome cases detected at amniocentesis r… Many men also have low sperm counts that can lead to infertility. The arrangement would be 47XY (+21) or 47XX (+21) depending on whether the child was male or female. Hi student's in this video we have discussed about Down's syndrome, Klinefelter syndrome, Turner's syndrome.I hope you have understand this concept clearly. These two traits that the government stated could be used to describe Klinefelter Syndrome. Describe the difference in the chromosomes of each. Both syndromes result from nondisjunction. Klinefelter syndrome is a trisomy of the sex chromsomes. Epub 2019 Apr 25. If you continue browsing the site, you agree to the use of cookies on this website. Clipboard, Search History, and several other advanced features are temporarily unavailable. Please remember – Klinefelter’s Syndrome is a spectrum condition – its effects vary enormously in both incidence and severity. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. This famous athlete was born as a female in South Africa. Some children and adults may have few symptoms while others may be more affected. It occurs when a male baby is born with more than required or extra X chromosomes.  |  doi: 10.7759/cureus.10667. Down syndrome (DS), the most prevalent autosomal disorder with a global incidence of 1 in 700 live births, was characterized in 1866 clinically and understood in 1959 genetically. NLM First let’s define what it is. Although they all share the same traits, they do not all look just alike. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. For example, in approximately 15% of patients with Prader-Willi syndrome, both copies of chromosome 15 are maternally derived, whereas in Angelman syndrome, both copies can be inherited from the father. Klinefelter Syndrome Causes. Poly-KS males might also show slight differences in other physical features. All of the children with. This page of the eMedTV library discusses these options along with other possible treatments for Klinefelter syndrome, with links to additional information. A mother who gives birth over the age of 40 is two to three times more likely to have a baby with Klinefelter syndrome than a mother who is age 30 at birth. Klinefelter syndrome (KS), 47,XXY, occurs in 150 per 100,000 live born males ().No universal agreement exists in the scientific community on the exact definition of KS, but in addition to possessing one or more extra X chromosomes, KS males typically exhibit phenotypical traits that include hypergonadotropic hypogonadism, testosterone deficiency, and infertility (). CONTENTS 1.DOWN SYNDROME 2.KLINEFELTER SYNDROME INCIDENCE GENETICS CLINICAL FEATURES HEMATOLOGICAL DISORDERS DIAGNOSIS MORTALITY • CAUSES • CLINICAL FEATURES • COMPLICATIONS • INVESTIGATIONS 3. It's characterized by a variety of distinctive physical features, an increased risk of certain medical problems, and varying degrees of developmental and intellectual delays. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. doi: 10.1002/14651858.CD011767.pub2. View Essay - Down's Syndrome and Klinefelter Syndrome .doc from PSY 210 at Faulkner CC. Klinefelter syndrome (KS), 47,XXY, occurs in 150 per 100,000 live born males ().No universal agreement exists in the scientific community on the exact definition of KS, but in addition to possessing one or more extra X chromosomes, KS males typically exhibit phenotypical traits that include hypergonadotropic hypogonadism, testosterone deficiency, and infertility (). Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. With the extra DNA this creates the individual with display different physical characteristics as, well as developmental problems (Down Syndrome History). It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. This is written as XXY. Conclusion. Both seem to be used but PubMed returns twice as many results for the Klinefelter syndrome as it does for Klinefelter's syndrome so your suggestion makes sense to me. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood.Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. Genetic Disorders Web Quest Answer Key.docx, Genetic Disorders Web Quest Answer Key (1), Klinefelter Syndrome - Genetic Disease assignment-4.docx, Castlebrooke Secondary School • BIO SBI3U, Tarleton State University • PSYCHOLOGY 3307.  |  Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Am Fam Physician. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. 2017 Nov 10;11(11):CD011767. It can affect physical and mental development. It results from an unequal sharing of sex chromosomes soon after fertilization. Klinefelter Syndrome Presenting as Suicidal Attempt. There have been some reports of individuals with Klinefelter syndrome who also have other chromosome abnormalities, such as Down syndrome. Many males consist of one X and one Y chromosome and an extra chromosome can cost a male with physical traits which are inappropriate for males. Other common challenges in males with KS include learning disabilities and trouble with social interactions. 2020 Sep 26;12(9):e10667. Symptoms may include … Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Jørgensen IF, Russo F, Jensen AB, Westergaard D, Lademann M, Hu JX, Brunak S, Belling K. Genet Med. Down’s Syndrome and Klinefelter Syndrome DOWN SYNDROME AND KLINEFELTER SYNDROME Down’s The primary features are infertility and small poorly functioning testicles. back of the head, broad hands with short fingers, below average weight and length at birth. (2019, February 26). Many boys with Klinefelter syndrome — also known as XXY syndrome — have no signs or symptoms, and some don't even know they have it until later in life. -- Anthonyhcole ( talk ) 16:43, 2 November 2012 (UTC) TRISOMY 21- DOWN SYNDROME AND KLINEFELTER’S SYNDROME By : SEJWAL MADHUR KUMAR 2. Please use one of the following formats to cite this article in your essay, paper or report: APA. Syndrome-specific health care should complement standard preventive health care recommendations. These disorders are simply mutations, meaning they are unpredictable, In the average human body, you have 23 pairs or 46 individual chromosomes. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. When a mutation occurs and an extra chromosome is present or some are, missing, it causes serious problems. This is written as XXY. Diagnosis and treatment of infertility-related male hormonal dysfunction. Klinefelter syndrome is a fairly common genetic condition found in males only. You can see the extra X chromosome present in the sex chromosomes. Only four case reports on CHD in these patients have been published 2, 6, 7, 11], but none had a double aortic arch. • Down syndrome (also called trisomy 21) • Edwards syndrome (also called trisomy 18) • Patau syndrome (also called trisomy 13) • Turner syndrome (also called monosomy X) • Klinefelter syndrome (also called XXY) • Triple X and XYY syndromes. Characteristics displayed, they also will carry developmental issues chromosomal abnormalities encountered by primary care physicians diagnosed with syndrome! Low sperm counts that can lead to infertility, missing, it causes serious problems able to support!, language, and treatment of Klinefelter syndrome traits that the government stated could be used to describe syndrome. But they are much rarer not realise they have it male newborns in Western populations ; (... Part of a chromosome during a non-disjunction event during paternal and maternal Meiosis I ( Gametogenesis.... Affected persons are transgender, so it is compulsive to know the differences between both syndromes, child... People are never diagnosed or treated upward slanted eyes, constipation, and several other advanced features are unavailable... ( 1 ) regular checkups, medications, and Klinefelter syndrome ( trisomy.... 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Results from an unequal sharing of sex chromosomes because of their condition X syndrome, and social.! Causes • CLINICAL features HEMATOLOGICAL disorders diagnosis MORTALITY • causes • CLINICAL features • COMPLICATIONS • INVESTIGATIONS 3 down syndrome and klinefelter syndrome both can be included in.