People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. The primary features are infertility and small poorly functioning testicles. As this eMedTV page explains, it only affects females. Instead of havin… Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Klinefelter syndrome is caused by the addition of an X chromosome. It can affect physical and mental development. Down syndrome, also called Trisomy 21, is a developmental disorder which is caused by an extra copy of chromosomes 21. In the case of Klinefelter syndrome, the male has 2 X chromosomes and 1 Y chromosome (Figure 1). Klinefelter syndrome and Turner syndrome are sex chromosomal abnormalities. Reaction range — … 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. Between 1-400 to 1-650 males are born with Klinefelter syndrome. 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 … Down syndrome is an autosomal chromosomal abnormality. 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 Turner syndrome is characterized by complete or partial absence of one of the two X chromosomes. They range from highly skilled to severely challenged, yet each person has a unique set of strengths. However, the syndromic specificity and developmental trajectories associated with EF difficulties in these groups are poorly understood. Ask doctors free. Normally, males have 46 chromosomes with one X and 1 Y chromosome. It can be identified at the infant stage but being a deformity of the extra X chromosome. Plotton, I., Brosse A., & Lejeune, H. (2010). 4 Two of the patients were adults, and these men had … Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. 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. Turner's syndrome and Klinefelter's syndrome involve abnormalities in the X 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. 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. Because Klinefelter syndrome falls on a spectrum, though there are many similarities, people with Klinefelter syndrome often learn, think and interact differently than others. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Klinefelter syndrome, also known as XXY syndrome, is a condition in boys and men that’s caused by an extra X chromosome. Genetics in Medicine, 5(6), 460-468. The Human Genome Project – humans have 30,000 genes. Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity? There was close similarity between the findings in the patients with sex chromosomal disorders and in … However, genetic testing can easily distinguish between these two conditi Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. 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 Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Three examples of genetic disorders are Down syndrome, Turner syndrome, and Breast/Ovarian cancer. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. Multimedia. 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. It is named after John Langdon Down who is a British physician who described the syndrome in 1866 (Living With Down Syndrome). For Down's syndrome, the 47th … Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Most humans have 23 pairs of chromosomes, totaling 46 chromosomes. Abstract. The presence of a Y chromosome is necessary for an individual to be male. Top answers from doctors based on your search: Disclaimer. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Dr. Johanna Fricke answered. • Down Syndrome Trisomy 21 (three) • Turner Syndrome (XO) • Klinefelter Syndrome (XXY) Polygenic inheritance In most cases, many genes interact to produce a particular characteristic. Where comparisons could be made, termination rates were similar in … Similarities Between Gene Mutation and Chromosomal Mutation Both gene mutation and chromosomal mutation cause alterations in the genetic material of an organism. Down's syndrome is caused by trisomy of chromosome 21—one of the smallest chromosomes. This possibility occurs as males with Klinefelter syndrome and Kallmann syndrome can have delayed or absent puberty and infertility concerns. down syndrome vs turner syndrome. Executive functions (EF) are thought to be impaired in Down syndrome (DS) and sex chromosome trisomy (Klinefelter and Trisomy X syndromes; +1X). Annales … All human chromosomes usually occur in pairs, with one copy inherited from a person’s mother and one from the father. Klinefelter syndrome may be confused with the genetic condition Kallmann syndrome. This chromosome is large compared with the male conferring Y sex chromosome. ; About one of every 500 males has an extra X chromosome, but many don't have any symptoms. This page further explores this syndrome and its causes, symptoms, and treatment options. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. 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. A 33-year-old member asked: what is the difference between down syndrome and turner syndrome? Often, symptoms are subtle and subjects do not realize they are affected. They are all aneuploidy conditions that result from nondisjunction during meiosis (gametogenesis- formation of gametes). 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. A Overview and Research Project on the chromosomal disorder known as Klinefelter Syndrome by Ian Layden for Ms. Brown's AP Biology class. Klinefelter Syndrome . 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. Kleinfelter syndrome facts author: John P. Cunha, DO, FACOEP. 49 years experience Developmental and Behavioral Pediatrics. 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). 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