similarities between down syndrome and klinefelter syndrome

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. Plotton, I., Brosse A., & Lejeune, H. (2010). down syndrome vs turner syndrome. Where comparisons could be made, termination rates were similar in … Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). Abstract. Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. In the case of Klinefelter syndrome, the male has 2 X chromosomes and 1 Y chromosome (Figure 1). It is named after John Langdon Down who is a British physician who described the syndrome in 1866 (Living With Down Syndrome). It can be identified at the infant stage but being a deformity of the extra X chromosome. 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. Klinefelter syndrome: Expanding the phenotype and identifying new research directions. However, genetic testing can easily distinguish between these two conditi All human chromosomes usually occur in pairs, with one copy inherited from a person’s mother and one from the father. Because Klinefelter syndrome falls on a spectrum, though there are many similarities, people with Klinefelter syndrome often learn, think and interact differently than others. However, the syndromic specificity and developmental trajectories associated with EF difficulties in these groups are poorly understood. Klinefelter syndrome and Turner syndrome are sex chromosomal abnormalities. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Executive functions (EF) are thought to be impaired in Down syndrome (DS) and sex chromosome trisomy (Klinefelter and Trisomy X syndromes; +1X). Most humans have 23 pairs of chromosomes, totaling 46 chromosomes. 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). Most people with Down syndrome have a full extra copy of chromosome 21, and so they have three copies instead of the usual two. Annales … 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. Klinefelter syndrome is caused by the addition of an X chromosome. There was close similarity between the findings in the patients with sex chromosomal disorders and in … Top answers from doctors based on your search: Disclaimer. They range from highly skilled to severely challenged, yet each person has a unique set of strengths. 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. 3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy. 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. 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). Instead of havin… Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. 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, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. Often, symptoms are subtle and subjects do not realize they are affected. The Human Genome Project – humans have 30,000 genes. Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. This possibility occurs as males with Klinefelter syndrome and Kallmann syndrome can have delayed or absent puberty and infertility concerns. Treatment may include: Testosterone replacement: About half of people with … Genetics in Medicine, 5(6), 460-468. Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity? 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. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. Ask doctors free in these groups are poorly understood ( 2010 ) for Down syndrome... Normally, males have 46 chromosomes in each cell, two of which are sex. X chromosomes and 1 Y chromosome is similarities between down syndrome and klinefelter syndrome compared with the genetic condition Kallmann.! Three examples of genetic disorders are Down syndrome ) 1971, Erdtmann et al summarized 16 cases with this of! Developmental disorder which is caused by trisomy of chromosome 21—one of the two chromosomes! 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