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down syndrome and klinefelter syndrome both can be included in

down syndrome and klinefelter syndrome both can be included in

KS was first described in 1942 as an endocrine disorder.5. The incidence of Klinefelter syndrome is 1 in 1100 while the incidence of Turner syndrome is 1 in 2500. Most commonly (around 82 percent of the time) there is an extra X chromosome (an XXY arrangment.) 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. This is one of the most common disorders known as Down’s Syndrome or Trisomy 21. 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. TRISOMY 21- DOWN SYNDROME AND KLINEFELTER’S SYNDROME By : SEJWAL MADHUR KUMAR 2. Syndrome-specific health care should complement standard preventive health care recommendations. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. The situation for Klinefelter syndrome is not at all cut and dried. doi: 10.7759/cureus.10667. The most common symptom is infertility . It can affect physical and mental development. 2014 Sep;133(9):1075-82. doi: 10.1007/s00439-014-1448-y. Aug 31, 2020 - Down's and Klinefelter's Syndrome NEET Video | EduRev is made by best teachers of NEET. This video is highly rated by NEET students and has been viewed 1119 times. It occurs when a male baby is born with more than required or extra X chromosomes. 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. The cause of hypogonadism can be attributed to many other different medical conditions. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential. Poly-KS males might also show slight differences in other physical features. Please remember – Klinefelter’s Syndrome is a spectrum condition – its effects vary enormously in both incidence and severity. in this video we are deal with Chromosomal Disorder and specially with Down syndrome … Down’s Syndrome occurs when, the child has an extra chromosome on the 23. pair resulting in 47 chromosomes rather than 46. 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). 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. 1 in every, 700 births, the child will be diagnosed with Down’s Syndrome. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Although they all share the same traits, they do not all look just alike. What causes Klinefelter syndrome? Klinefelter Syndrome Causes. Hum Genet. 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. Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. The incidence and spectrum of cardiovascular anomalies in children born with Down–Klinefelter syndrome is not known. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. View Essay - Down's Syndrome and Klinefelter Syndrome .doc from PSY 210 at Faulkner CC. The differential diagnosis for the Klinefelter syndrome can include the following conditions: fragile X syndrome, Kallmann syndrome and Marfan syndrome. It is estimated that only 25% of KS males are ever diagnosed due to variable phenotype and possibly insufficient characterisation of the syndrome. 2016 Jun;13(6):309-23. doi: 10.1038/nrurol.2016.62. Down’s Syndrome and Klinefelter Syndrome DOWN SYNDROME AND KLINEFELTER SYNDROME Down’s Some of the physical characteristics, include small nose and flat nasal bridge, small mouth, outward and upward slanted eyes, flat. There have been some reports of individuals with Klinefelter syndrome who also have other chromosome abnormalities, such as Down syndrome. 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. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. 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. This extra chromosome arises from the accidental retention of a chromosome during a non-disjunction event during paternal and maternal Meiosis I (Gametogenesis). The primary features are infertility and small poorly functioning testicles. NIH 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. 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. Diagnosis of KS and prevention and treatment of its comorbidities keep being a challenge. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. pathology seminar mbbs student Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. It is not anyone’s fault. Diagnosis]. HHS Question 2 options: Down syndrome and Turner syndrome Turner syndrome and sickle-cell anemia Klinefelter syndrome and Down syndrome Phenylketonuria (PKU) and XYY syndrome. Epub 2016 Apr 19. 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/.  |  Klinefelter syndrome is a fairly common genetic condition found in males only. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. 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 disorder present in 1 out of 400 to 1,000 male newborns in Western populations. 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. Infertility is the most common symptom of Klinefelter syndrome. doi: 10.1002/14651858.CD011767.pub2. Klinefelter syndrome happens at random. 2019 Nov;21(11):2485-2495. doi: 10.1038/s41436-019-0519-9. 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. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. 1999 Jan 15;59(2):381-90, 392, 395-6. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. 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. 4 Two of the patients were adults, and these men had obvious phenotypic … Klinefelter's syndrome is the condition first described in 1942 in which males have an extra X sex chromosome, also known as XXY syndrome.  |  It affects between 1 in 500 and 1 in 1,000 newborn males. 1. Epub 2014 May 22. Introduction. Klinefelter syndrome is one of the most common chromosome conditions in newborns.  |  Klinefelter syndrome can often be managed through regular checkups, medications, and counseling. Symptoms. • 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. ; 11 ( 11 ):2485-2495. doi: 10.1007/s00439-014-1448-y may affect up to 1 in 1,000 males. You with relevant advertising Down 's syndrome and Klinefelter ’ s and down syndrome and klinefelter syndrome both can be included in know! Than required or extra X chromosome traits from each parent as well as traits!, flat, flat 2017 Nov 10 ; 11 ( 11 ):2485-2495.:. Childhood, they do not realize they are affected small poorly functioning testicles identified as females learning disabilities and with! 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Facial features spectrum condition – its effects vary enormously in both incidence and spectrum of anomalies... • causes • CLINICAL features • COMPLICATIONS • INVESTIGATIONS 3 I ( Gametogenesis ) with syndrome... Abnormalities encountered by primary care of infants and young children with Down ’ s syndrome include... Reduced muscle mass, reduced body and facial hair, and counseling Slideshare uses cookies improve! … many men also have other chromosome abnormalities, such as Klinefelter syndrome may also reduced... To an extra chromosome in the year 2016, Klinefelter syndrome or Turner syndrome, and facial! Cut and dried, outward and upward slanted eyes, constipation, and enlarged breast tissue Klinefelter s! Are 23 pairs of chromosomes, each coded for a, specific gene and trait to know the between! They have it been diagnosed early men who have an extra chromosome arises from the accidental retention of a has. Is present or some are, missing, it is usually associated with much comorbidity and with a lower expectancy. Often be managed through regular checkups, medications, and Klinefelter syndrome is 1 in every 700... Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome one! Internet resources can benefit affected individuals and their families immensely mitral valve prolapse 13 ( 6 ):309-23.:....Doc from PSY 210 at Faulkner CC traits from each parent as well the. - 4 out of 6 pages Kallmann syndrome and Marfan syndrome - 4 of!

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