Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Ask doctors free. 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. Most people with Down syndrome have a full extra copy of chromosome 21, and so they have three copies instead of the usual two. However, genetic testing can easily distinguish between these two conditi Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Klinefelter syndrome is caused by the addition of an X chromosome. Instead of having the usual XY chromosome pattern that most males have, these men have an XXY pattern. The presence of a Y chromosome is necessary for an individual to be male. Treatment may include: Testosterone replacement: About half of people with … Three examples of genetic disorders are Down syndrome, Turner syndrome, and Breast/Ovarian cancer. Where comparisons could be made, termination rates were similar in … Down syndrome, also called Trisomy 21, is a developmental disorder which is caused by an extra copy of chromosomes 21. Turner syndrome is characterized by complete or partial absence of one of the two X chromosomes. Top answers from doctors based on your search: Disclaimer. Klinefelter syndrome: Expanding the phenotype and identifying new research directions. For Down's syndrome, the 47th … Often, symptoms are subtle and subjects do not realize they are affected. This possibility occurs as males with Klinefelter syndrome and Kallmann syndrome can have delayed or absent puberty and infertility concerns. Down syndrome is an autosomal chromosomal abnormality. 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. People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. 49 years experience Developmental and Behavioral Pediatrics. 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. This page further explores this syndrome and its causes, symptoms, and treatment options. Normally, males have 46 chromosomes with one X and 1 Y chromosome. Abstract. 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). Is it useful to modify the care of Klinefelter's syndrome to improve the chances of paternity? Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells. 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. Plotton, I., Brosse A., & Lejeune, H. (2010). Between 1-400 to 1-650 males are born with Klinefelter syndrome. 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 Reaction range — … 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 symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. Both syndrome's indicate the presence of a 47th chromosome (or extra part of a chromosome). There was close similarity between the findings in the patients with sex chromosomal disorders and in … They are all aneuploidy conditions that result from nondisjunction during meiosis (gametogenesis- formation of gametes). Down's syndrome is caused by trisomy of chromosome 21—one of the smallest chromosomes. 4 Two of the patients were adults, and these men had … Instead of havin… Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. It can affect physical and mental development. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. 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. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY). 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