Turner Syndrome, Klinefelter Syndrome,Down Syndrome - Free download as Powerpoint Presentation (.ppt), PDF File (.pdf), Text File (.txt) or view presentation slides … Down syndrome or Mongolism is autosomal disorder and turner and klinefelter's syndrome are sex chromosomal disorder caused due to non disjunction. 00:15 They have 2 or more X chromosomes and 1 or more Y chromosomes. I am one of them. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. C. Down Syndrome. • 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. Although they are not mentally retarded, most males with Klinefelter syndrome have some degree of language impairment. 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). Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. The main difference between Klinefelter and Turner Syndrome is that Klinefelter syndrome is a trisomy whereas Turner syndrome is a monosomy. Often, symptoms are subtle and subjects do not realize they are affected. Normally, males have 46 chromosomes with one X and 1 Y chromosome. Clinical manifestations of Turner's, Down's, and Klinefelter's syndrome 2.1. Individuals with this syndromes are phenotypically males but with tendency towards femaleness. E. Klinefelter Syndrome. They are all aneuploidy conditions that result from nondisjunction during meiosis (gametogenesis- formation of gametes). 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's syndrome. Simultaneous coexistence of DS and Klinefelter syndrome is relatively frequent. 00:01 In this lecture, we will discuss Klinefelter Syndrome and Turner Syndrome. The normal male chromosome arrangement is 46XY, but for men with Klinefelter syndrome it is 47XXY. Klinefelter Syndrome What is Klinefelter syndrome? Close suggestions. Turner syndrome is a genetic disorder in females, it is due to the partial or complete loss of one of the X chromosomes. This eMedTV selection takes a closer look at this genetic condition, including its causes, symptoms, treatment options, and more. The primary features are infertility and small poorly functioning testicles. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. 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. Start studying Klinefelter Syndrome/Turner Syndrome. Turner syndrome leads to various developmental problems and people with Turner syndrome … See more ideas about klinefelter syndrome, syndrome, nursing study. Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Klinefelter syndrome can cause sparse facial hair, small testes, and breast development in men. We will then look at five syndromes that result from aneuploidy, including occurrence and characteristics of each syndrome. Most males have one Y and one 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. 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 00:06 These are genetic problems with the sex chromosomes. 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. Jun 4, 2019 - Klinefelter syndrome is a genetic disorder that affects males. Search Search. Discuss, under the guide of genetic disorder, one of the following diseases: Down Syndrome, Klinefelter Syndrome, Turner Syndrome, Tay-Sachs Disease, Phenylketonuria, or Cystic Fibrosis 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 … The presence of a Y chromosome is necessary for an individual to be male. See more ideas about klinefelter syndrome, awareness poster, 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. Klinefelter syndrome is caused by the addition of an X chromosome. Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. The early diagnosis of them can be helpful in treating the complications arising from the underlying disease. Jun 24, 2019 - Explore Linda Jennings's board "Klinefelter" on Pinterest. Klinefelter Syndrome . It is congenital, which means it is present from birth. Translocation type DS constitutes about 5% of all down syndromes but DS with translocation not including chromosome 21 is quite rare (1). In particular, we will be investigating polyploidy and aneuploidy, two types of chromosomal variation. The typical features of Turner's syndrome include short stature, infertility, and hypogonadism. Reaction range — a range of possible phenotypes for each genotype. Turner syndrome is also known as monosomy of the X chromosome. 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 Find PowerPoint Presentations and Slides using the power of XPowerPoint.com, find free presentations research about Klinefelter Syndrome PPT View and Download PowerPoint Presentations on Klinefelter Syndrome PPT. Turner's syndrome occurs in about 1 in 2000 live female births. In Turner syndrome, females have undeveloped breast while in Klinefelter syndrome males have enlarged breast. In the case of Klinefelter syndrome, the male has 2 X chromosomes and 1 Y chromosome (Figure 1). Klinefelter syndrome is a genetic (chromosomal) condition that only affects males. See more ideas about klinefelter syndrome, x chromosome, syndrome. Learn vocabulary, terms, and more with flashcards, games, and other study tools. 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. Scribd is the world's largest social reading and publishing site. D. Turner Syndrome. The Human Genome Project – humans have 30,000 genes. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. F. XYY Syndrome. Having extra X chromosomes can cause a male to have some physical traits unusual for males. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 00:09 So let?s start with Klinefelter Syndrome. Nov 28, 2015 - Explore Behavior Doctor Seminars's board "Klinefelter Syndrome", followed by 956 people on Pinterest. On the contrary, the combination of DS and Turner syndrome is very rare (estimated frequency is 1 in 2,000,000) (3–7). 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). Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as 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. Born with one X and 1 Y chromosome is necessary for an individual to be male 46 with... The most common chromosomal abnormalities encountered by primary care physicians complications arising from the underlying disease, they learn. 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