This page further explores this syndrome and its causes, symptoms, and treatment options. In the case of Klinefelter syndrome, the male has 2 X chromosomes and 1 Y chromosome (Figure 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). 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. • Down Syndrome Trisomy 21 (three) • Turner Syndrome (XO) • Klinefelter Syndrome (XXY) Polygenic inheritance In most cases, many genes interact to produce a particular characteristic. 4 Two of the patients were adults, and these men had … Similarities Between Gene Mutation and Chromosomal Mutation Both gene mutation and chromosomal mutation cause alterations in the genetic material of an organism. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. As this eMedTV page explains, it only affects females. For Down's syndrome, the 47th … Klinefelter syndrome and Turner syndrome are sex chromosomal abnormalities. Both syndrome's indicate the presence of a 47th chromosome (or extra part of a chromosome). down syndrome vs turner syndrome. The correlations for stature between parents and grown-up offspring in 90 normal males and 116 normal females have been compared with similar correlations obtained in 27 adult males with Klinefelter's syndrome, 33 adult females with Turner's syndrome and in 75 adult patients with Down's syndrome. Multimedia. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Most people with Down syndrome have a full extra copy of chromosome 21, and so they have three copies instead of the usual two. 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 caused by the addition of an X chromosome. Executive functions (EF) are thought to be impaired in Down syndrome (DS) and sex chromosome trisomy (Klinefelter and Trisomy X syndromes; +1X). They were highest following a prenatal diagnosis of Down syndrome (92 per cent; CI: 91 per cent to 93 per cent) and lowest following diagnosis of Klinefelter syndrome (58 per cent; CI: 50 per cent to 66 per cent). 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. Down syndrome is an autosomal chromosomal abnormality. Between 1-400 to 1-650 males are born with Klinefelter syndrome. Reaction range — … The presence of a Y chromosome is necessary for an individual to be male. A 33-year-old member asked: what is the difference between down syndrome and turner syndrome? Turner syndrome is characterized by complete or partial absence of one of the two X chromosomes. There was close similarity between the findings in the patients with sex chromosomal disorders and in … Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. Normally, males have 46 chromosomes with one X and 1 Y chromosome. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. They range from highly skilled to severely challenged, yet each person has a unique set of strengths. Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity? Instead of havin… Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. The primary features are infertility and small poorly functioning testicles. Abstract. Often, symptoms are subtle and subjects do not realize they are affected. The differences between Down syndrome and Klinefelter syndrome are as follows: Down syndrome: It is caused by the extra 21 chromosome that is present in an offspring. All human chromosomes usually occur in pairs, with one copy inherited from a person’s mother and one from the father. If the effects of Klinefelter syndrome are compared to the effects of Down Syndrome, this disorder is a. more severe than Down syndrome, due to gene deletions in this syndrome b. more severe than Down syndrome, due to trisomy in Klinefelter syndrome c. less severe than Down syndrome, due to monosomy in Down Syndrome Annales … Klinefelter Syndrome . Turner's syndrome and Klinefelter's syndrome involve abnormalities in the X sex chromosome. Dr. Johanna Fricke answered. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. Down syndrome — also known as trisomy 21 — is a condition in which a person is born with extra genetic material from chromosome 21, one of the 23 human chromosomes. 49 years experience Developmental and Behavioral Pediatrics. Top answers from doctors based on your search: Disclaimer. Most humans have 23 pairs of chromosomes, totaling 46 chromosomes. Klinefelter syndrome may be confused with the genetic condition Kallmann syndrome. Plotton, I., Brosse A., & Lejeune, H. (2010). Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Down's syndrome is caused by trisomy of chromosome 21—one of the smallest chromosomes. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. It can affect physical and mental development. The Human Genome Project – humans have 30,000 genes. Three examples of genetic disorders are Down syndrome, Turner syndrome, and Breast/Ovarian cancer. Where comparisons could be made, termination rates were similar in … It can be identified at the infant stage but being a deformity of the extra X chromosome. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. A Overview and Research Project on the chromosomal disorder known as Klinefelter Syndrome by Ian Layden for Ms. Brown's AP Biology class. This chromosome is large compared with the male conferring Y sex chromosome. 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. They are all aneuploidy conditions that result from nondisjunction during meiosis (gametogenesis- formation of gametes). 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. An individual with Swyer syndrome (46, XY) differs from an individual with Klinefelter syndrome (47, XXY) because an individual with Klinefelter syndrome has a functional SRY gene on his Y chromosome, whereas an individual with Swyer syndrome does not. Treatment may include: Testosterone replacement: About half of people with … It is named after John Langdon Down who is a British physician who described the syndrome in 1866 (Living With Down Syndrome). However, the syndromic specificity and developmental trajectories associated with EF difficulties in these groups are poorly understood. Because Klinefelter syndrome falls on a spectrum, though there are many similarities, people with Klinefelter syndrome often learn, think and interact differently than others. Ask doctors free. However, genetic testing can easily distinguish between these two conditi Down syndrome, Turner syndrome, and Klinefelter syndrome: Primary care throughout the life span October 2004 Primary Care Clinics in Office Practice 31(3):627-48, x-xi 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. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. 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