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Chromosome analysis. Klinefelter Syndrome often referred to as XXY trisomy, XXY syndrome, and Klinefelter’s Syndrome is a chromosomal disorder exclusively associated with males having one or more of the X chromosome than the normal ‘XY’ pattern. The Klinefelter syndrome was first described in 1942 [].It affects approximately 1 / 600 men and thus belongs to the most frequently occurring genetic syndromes. This video shows you how to say Klinefelter Syndrome. Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY. 2. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Many of those who have KS may not even realise they have the condition as 75% are undiagnosed. The results of one study on non-mosaic XXY infants younger than 2 years indicated that most XXY babies had normal external genitalia and facial features with height and weight in the normal range. Klinefelter syndrome was diagnosed by peripheral karyotype analysis. Affected boys tend to be tall with disproportionately long arms and legs. Males with Klinefelter Syndrome who wish to reproduce can often successfully do so using In … How would you pronounce Klinefelter Syndrome? The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Typically, a person’s genetic code is made up of either two X chromosomes (genetic female) or one X and one Y chromosome (genetic male). 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. Under normal circumstances males have XY sex chromosomes and females have XX sex chromosomes . Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. However it is now accepted that, although many with the condition do have some learning difficulties, with appropriate support these often can be overcome. This results in smaller-sized testicles, low testosterone levels, and possibly infertility. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. 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. Although very few men will be able to father children without assistance, there are techniques already available by which sperm could be extracted from the testes. Archives of Diseases in Children, 80(2), 192-195. Click. Prognosis for Klinefelter Syndrome Treatment can help boys and men with Klinefelter live happy, healthy lives. Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome.Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Azoospermia and Genetics in Medicine, 5(6), 460-468. Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity? Ratcliffe, S. (1999). The prognosis of Klinefelter syndrome depends on the extent of the condition. Chromosomes are packages of genes found in every cell in the body. Site users seeking medical advice about their specific situation should consult with their own physician. 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. Klinefelter Syndrome Symptoms. The condition results when one or more extra X chromosomes are present in the cells of XY fetuses. Previous. For some, the symptoms start early in life and treatment may be needed throughout all stages of growth. Klinefelter syndrome … Klinefelter syndrome: Expanding the phenotype and identifying new research directions. It has been calculated that men with Klinefelter syndrome have a 15- to 20-fold 4.2 Although success rates are poor at present, they are likely to improve. However, Klinefelter syndrome is often overlooked or untreated. Treatment and prognosis Early recognition and hormonal treatment can improve quality of life and prevent serious complications. Klinefelter syndrome appears to occur more frequently with both older maternal and paternal age (over the age of 35.) The prognosis for Klinefelter Syndrome Life expectancy in patients with Klinefelter syndrome is near to the average life expectancy and therefore has an overall good prognosis. Klinefelter syndrome, 47, XXY is a clinical example of sex chromosome lesions. Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood.Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. [3][9] Often, symptoms are subtle and subjects do not realize they are affected. If you continue to use this site we will assume that you are happy with it. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. The condition results when one or more extra … The extra X chromosomes are maternally derived in 60% of cases. No one can predict for certain what effect the extra X chromosome will have on an individual. Plotton, I., Brosse A., & Lejeune, H. (2010). Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. Long-term outcome in children of sex chromosome abnormalities. The association between Klinefelter syndrome and breast cancer is based on both cytogenetic analyses in men who had acquired breast cancer [11] and epidemiological studies. An interesting XXY story from Glass magazine, Research into men’s experience of pregnancy following fertility treatment, Guy’s Hospital First Klinefelter’s Syndrome (KS/XXY) Adolescent Clinic, Your views on intersex community platforms – Dublin University survey. 2 It is especially helpful to begin treatment by early puberty. Affected males have an extra X chromosome. It is sometimes just called XXY. Early studies of men with XXY Klinefelter syndrome produced disturbing findings of an increased risk of psychiatric disturbance, criminality, and mental retardation. To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation. Prognosis for Klinefelter Syndrome Treatment can help boys and men with Klinefelter live happy, healthy lives. Ratcliffe, S. (1999). The matching ensured that comparisons were adjusted for age and cal… While KS individuals have an extra X chromosome making the total number of … Hormone testing. Rarely people with Klinefelter syndrome can have even more X chromosomes, such as 48 XXXY or 49 XXXXY.This is associated with more severe features. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. Klinefelter syndrome shows a wide phenotypic spectrum, ranging from mild or aspecific (undetected) cases, to sterility, to learning or behavioral problems and/or physical features becoming manifest at an early age. 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. Klinefelter disease is characterized by the presence of at least one extra X chromosome in boys, which leads to impaired puberty in them. Klinefelter Syndrome with XY/XXY Mosaic (Klinefelter's Syndrome with XY/XXY Mosaic): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast … [encyclopedia.com] Etiology Germ cells do not survive in the testes, leading to decreased sperm and androgens. 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