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 … Turner syndrome leads to various developmental problems and people with Turner syndrome … Turner's syndrome occurs in about 1 in 2000 live female births. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Close suggestions. The typical features of Turner's syndrome include short stature, infertility, and hypogonadism. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. They are all aneuploidy conditions that result from nondisjunction during meiosis (gametogenesis- formation of gametes). Start studying Klinefelter Syndrome/Turner Syndrome. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. 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 Trisomy 21 (three) • Turner Syndrome (XO) • Klinefelter Syndrome (XXY) Polygenic inheritance In most cases, many genes interact to produce a particular characteristic. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Jun 4, 2019 - Klinefelter syndrome is a genetic disorder that affects males. Search Search. Turner Syndrome, Klinefelter Syndrome,Down Syndrome - Free download as Powerpoint Presentation (.ppt), PDF File (.pdf), Text File (.txt) or view presentation slides … Find PowerPoint Presentations and Slides using the power of XPowerPoint.com, find free presentations research about Klinefelter Syndrome PPT Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Reaction range — a range of possible phenotypes for each genotype. 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 In particular, we will be investigating polyploidy and aneuploidy, two types of chromosomal variation. 00:01 In this lecture, we will discuss Klinefelter Syndrome and Turner Syndrome. The main difference between Klinefelter and Turner Syndrome is that Klinefelter syndrome is a trisomy whereas Turner syndrome is a monosomy. The Human Genome Project – humans have 30,000 genes. Klinefelter Syndrome . Individuals with this syndromes are phenotypically males but with tendency towards femaleness. D. Turner Syndrome. 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). The presence of a Y chromosome is necessary for an individual to be male. 00:15 They have 2 or more X chromosomes and 1 or more Y chromosomes. Simultaneous coexistence of DS and Klinefelter syndrome is relatively frequent. See more ideas about klinefelter syndrome, syndrome, nursing study. Turner's syndrome. View and Download PowerPoint Presentations on Klinefelter Syndrome PPT. Klinefelter syndrome is a genetic (chromosomal) condition that only affects males. Down syndrome or Mongolism is autosomal disorder and turner and klinefelter's syndrome are sex chromosomal disorder caused due to non disjunction. 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. Although they are not mentally retarded, most males with Klinefelter syndrome have some degree of language impairment. Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. Nov 28, 2015 - Explore Behavior Doctor Seminars's board "Klinefelter Syndrome", followed by 956 people on Pinterest. Having extra X chromosomes can cause a male to have some physical traits unusual for males. Turner syndrome is also known as monosomy of the X chromosome. 00:12 These patients usually have male hypogonadism. Clinical manifestations of Turner's, Down's, and Klinefelter's syndrome 2.1. See more ideas about klinefelter syndrome, awareness poster, syndrome. 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 The early diagnosis of them can be helpful in treating the complications arising from the underlying disease. Most males have one Y and one X chromosome. 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. The primary features are infertility and small poorly functioning testicles. Scribd is the world's largest social reading and publishing site. 00:06 These are genetic problems with the sex chromosomes. E. Klinefelter Syndrome. Normally, males have 46 chromosomes with one X and 1 Y chromosome. Translocation type DS constitutes about 5% of all down syndromes but DS with translocation not including chromosome 21 is quite rare (1). 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. 00:09 So let?s start with Klinefelter Syndrome. Klinefelter syndrome can cause sparse facial hair, small testes, and breast development in men. Learn vocabulary, terms, and more with flashcards, games, and other study tools. In the case of Klinefelter syndrome, the male has 2 X chromosomes and 1 Y chromosome (Figure 1). Men with Klinefelter syndrome have an extra X chromosome. It is congenital, which means it is present from birth. Klinefelter Syndrome What is Klinefelter syndrome? Klinefelter syndrome is caused by the addition of an 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. 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 24, 2019 - Explore Linda Jennings's board "Klinefelter" on Pinterest. Turner syndrome is a genetic disorder in females, it is due to the partial or complete loss of one of the X chromosomes. The normal male chromosome arrangement is 46XY, but for men with Klinefelter syndrome it is 47XXY. F. XYY Syndrome. C. Down Syndrome. This eMedTV selection takes a closer look at this genetic condition, including its causes, symptoms, treatment options, and more. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. We will then look at five syndromes that result from aneuploidy, including occurrence and characteristics of each syndrome. They show some abnormal features such as enlarged breasts, underdeveloped body hair, and small testes and prostrate glands. Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome. See more ideas about klinefelter syndrome, x chromosome, syndrome. In Turner syndrome, females have undeveloped breast while in Klinefelter syndrome males have enlarged breast. Often, symptoms are subtle and subjects do not realize they are affected. I am one of them. 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