We will then look at five syndromes that result from aneuploidy, including occurrence and characteristics of each syndrome. Clinical manifestations of Turner's, Down's, and Klinefelter's syndrome 2.1. Clinically, 4 of our patients (0.44%) had most of the phenotypic features of Down syndrome as well as variable features characteristic of Turner or Klinefelter syndrome. Turner Syndrome, Klinefelter Syndrome,Down Syndrome.pptx - Free download as Powerpoint Presentation (.ppt / .pptx), PDF File (.pdf), Text File (.txt) or view presentation slides online. See more ideas about klinefelter syndrome, awareness poster, syndrome. Normally, males have 46 chromosomes with one X and 1 Y chromosome. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. 00:09 So let?s start with Klinefelter Syndrome. Often, symptoms are subtle and subjects do not realize they are affected. See more ideas about klinefelter syndrome, syndrome, nursing study. I am one of them. Translocation type DS constitutes about 5% of all down syndromes but DS with translocation not including chromosome 21 is quite rare (1). Close suggestions. Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review Caroline Mansfield Psychology and Genetics Research Group, Guy's, King's and St Thomas' Medical School (King's College), Guy's Campus, London, SE1 … F. XYY Syndrome. Having extra X chromosomes can cause a male to have some physical traits unusual for males. Men with Klinefelter syndrome have an extra X chromosome. As children, they often learn to speak much later than other children, and may have difficulty learning to read and write. The main difference between Klinefelter and Turner Syndrome is that Klinefelter syndrome is a trisomy whereas Turner syndrome is a monosomy. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Jun 24, 2019 - Explore Linda Jennings's board "Klinefelter" on Pinterest. 00:06 These are genetic problems with the sex chromosomes. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. The Human Genome Project – humans have 30,000 genes. Klinefelter Syndrome What is Klinefelter syndrome? See more ideas about klinefelter syndrome, x chromosome, syndrome. View and Download PowerPoint Presentations on Klinefelter Syndrome PPT. Although they are not mentally retarded, most males with Klinefelter syndrome have some degree of language impairment. 00:01 In this lecture, we will discuss Klinefelter Syndrome and Turner Syndrome. Nov 28, 2015 - Explore Behavior Doctor Seminars's board "Klinefelter Syndrome", followed by 956 people on Pinterest. Turner syndrome leads to various developmental problems and people with Turner syndrome … E. Klinefelter Syndrome. Arial Calibri Constantia Wingdings 2 Comic Sans MS Flow 1_Flow 2_Flow 3_Flow Chromosomes & Karyotypes Chromosomes Chromosome Number Nondisjunction Normal Male Normal Female Male, Trisomy 21 (Down’s) Female Down’s Syndrome Klinefelter’s Syndrome Turner’s Syndrome Slide 11 In the case of Klinefelter syndrome, the male has 2 X chromosomes and 1 Y chromosome (Figure 1). Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. • Down Syndrome Trisomy 21 (three) • Turner Syndrome (XO) • Klinefelter Syndrome (XXY) Polygenic inheritance In most cases, many genes interact to produce a particular characteristic. 00:12 These patients usually have male hypogonadism. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. C. Down Syndrome. Klinefelter syndrome is a genetic (chromosomal) condition that only affects males. Simultaneous coexistence of DS and Klinefelter syndrome is relatively frequent. On the contrary, the combination of DS and Turner syndrome is very rare (estimated frequency is 1 in 2,000,000) (3–7). Turner's syndrome occurs in about 1 in 2000 live female births. Scribd is the world's largest social reading and publishing site. The early diagnosis of them can be helpful in treating the complications arising from the underlying disease. Search Search. The presence of a Y chromosome is necessary for an individual to be male. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Turner syndrome is also known as monosomy of the X chromosome. 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 Turner syndrome, females have undeveloped breast while in Klinefelter syndrome males have enlarged breast. Reaction range — a range of possible phenotypes for each genotype. Turner syndrome is a genetic disorder in females, it is due to the partial or complete loss of one of the X chromosomes. Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. Learn vocabulary, terms, and more with flashcards, games, and other study tools. It is congenital, which means it is present from birth. Down syndrome Klinefelter syndrome Trisomy X Turner syndrome This study resource was shared via CourseHero.com Correct A triploid cell has three sets of chromosomes: the two from the diploid gamete and the one from the haploid gamete. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. Turner Syndrome, Klinefelter Syndrome,Down Syndrome - Free download as Powerpoint Presentation (.ppt), PDF File (.pdf), Text File (.txt) or view presentation slides … Klinefelter Syndrome . Jun 4, 2019 - Klinefelter syndrome is a genetic disorder that affects males. D. Turner Syndrome. Down syndrome (47, +21) is the presence of an extra #21 chromosome; Klinefelter syndrome is the presence of an extra X chromosome (47, XXY); Turner syndrome is the absence of a second sex chromosome (45, XO). Turner's syndrome. The normal male chromosome arrangement is 46XY, but for men with Klinefelter syndrome it is 47XXY. They are all aneuploidy conditions that result from nondisjunction during meiosis (gametogenesis- formation of gametes). Start studying Klinefelter Syndrome/Turner Syndrome. The typical features of Turner's syndrome include short stature, infertility, and hypogonadism. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome is caused by the addition of an X chromosome. Most males have one Y and one X chromosome. Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome. 00:15 They have 2 or more X chromosomes and 1 or more Y chromosomes. Klinefelter syndrome can cause sparse facial hair, small testes, and breast development in men. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Individuals with this syndromes are phenotypically males but with tendency towards femaleness. We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). This eMedTV selection takes a closer look at this genetic condition, including its causes, symptoms, treatment options, and more. Title: Klinefelter's syndrome Author: Twinz Last modified by: whames Created Date: 11/9/2011 2:22:30 AM Document presentation format: On-screen Show | PowerPoint PPT presentation | free to download A presentation about Klinefelter Syndrome 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 particular, we will be investigating polyploidy and aneuploidy, two types of chromosomal variation. 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