Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. Only four case reports on CHD in these patients have been published 2, 6, 7, 11], but none had a double aortic arch. In males, there is, chromosome pair in which there are two X’s and one Y know as, Klinefelter Syndrome. Often, symptoms are subtle and subjects do not realize they are affected. 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 typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. First let’s define what it is. doi: 10.1002/14651858.CD011767.pub2. She was rumored to have a rare genetic disorder which gave her an advantage in sports over the others, but it was later diagnosed as klinefelter’s syndrome.  |  Some chromosomal disorders occur in the 23, pair, which determines the sex. HHS Many boys and men do not realise they have it. Two-thirds of affected newborns show a karyotype of 47,XXY. The situation for Klinefelter syndrome is not at all cut and dried. Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome. Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Both syndromes result from nondisjunction. Epub 2016 Apr 19. Down syndrome is caused by an extra or part of an extra 21st chromosome while Turner syndrome is caused by an absence in one or part of the sex(X) chromosome.Down syndrome can occur in both … Which of the following prescription and nonprescription drugs can have harmful effects on an embryo … These disorders are simply mutations, meaning they are unpredictable, In the average human body, you have 23 pairs or 46 individual chromosomes. Researchers have new evidence that points to the protein SNX27. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. The incidence of Klinefelter syndrome is 1 in 1100 while the incidence of Turner syndrome is 1 in 2500. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. Please enable it to take advantage of the complete set of features!  |  This page of the eMedTV library discusses these options along with other possible treatments for Klinefelter syndrome, with links to additional information. Klinefelter syndrome (KS) (47,XXY) is the most common male sex chromosome aneuploidy with a prevalence of approximately 1 in 650 males. There have been some reports of individuals with Klinefelter syndrome who also have other chromosome abnormalities, such as Down syndrome. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Many males consist of one X and one Y chromosome and an extra chromosome can cost a male with physical traits which are inappropriate for males. • Down syndrome (also called trisomy 21) • Edwards syndrome (also called trisomy 18) • Patau syndrome (also called trisomy 13) • Turner syndrome (also called monosomy X) • Klinefelter syndrome (also called XXY) • Triple X and XYY syndromes. Klinefelter syndrome (KS), 47,XXY, occurs in 150 per 100,000 live born males ().No universal agreement exists in the scientific community on the exact definition of KS, but in addition to possessing one or more extra X chromosomes, KS males typically exhibit phenotypical traits that include hypergonadotropic hypogonadism, testosterone deficiency, and infertility (). Often, symptoms are subtle and subjects do not realize they are affected. Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in males with KS. down syndrome . 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