Klinefelter in 1942 reported an abnormal male syndrome, which came to be known as Klinefelter syndrome. Klinefelter's syndrome is caused by the presence of an additional X chromosome in males and it manifests itself as a disorder of the endocrine system (Zitzmann et al., 2004). In 1959, Down syndrome was shown to be associated with an extra chromosome in the G group1; Klinefelter syndrome was associated with an extra X chromosome2; and a case of double aneuploidy, a 48,XXY,G + male, was reported.3 In 1971, Erdtmann et al summarized 16 cases with this form of double aneuploidy.4 Two of the patients were adults, and these men had obvious phenotypic abnormalities. See our Privacy Policy and User Agreement for details. Most men inherit a single X chromosome from their mother, and a single Y chromosome from their father. Accessibility Statement. 1. Looks like you’ve clipped this slide to already. The probability of having a child with Down's syndrome increases with the age of the parents. When an individual has a different chromosomal content in his/her cells, it is … People with Down syndrome do not plateau or stop learning new skills in their teenage or adult years. It can be identified at the infant stage but being a deformity of the extra X chromosome. Individuals with this syndromes are phenotypically males but with tendency towards femaleness. Privacy Policy| We report here results of endocrine, cytogenetic, and in vitro testicular steroidogenesis studies in a 19-year-old man with a 48,XXY,G + chromosome constitution, who lacked many of the classical features of Down or Klinefelter syndromes. The chance a baby with Down syndrome increases with the age of the mother, however, 80 percent of babies with Down syndrome are born to 35 years old or younger women, simply because women in that age group have the most babies. If you continue browsing the site, you agree to the use of cookies on this website. Sometimes, this mutation is … Men with Klinefelter syndrome typically produce little testosterone, resulting in … Klinefelter Syndrome Symptoms. #Klinefelter Syndrome. No public clipboards found for this slide. For example, lymphocytic leukemia is the result of cells containing 3 sets of chromosome 12. Dr. Talbott was a medical student with an elective in reproductive endocrinology, Montefiore Hospital. The increased susceptibility to autoimmunity in Turner's syndrome, Down's syndrome, Klinefelter's syndrome is by mechanisms that are not entirely clear but likely to involve an interaction between genetic predisposition, impairment in peripheral or central tolerance, and exposure to environmental factors. You can change your ad preferences anytime. INCIDENCE : 1 in 2000 live male births KARYOTYPE: 82% have classical 47,XXY 15% mosaics , 46XY/47,XXY Remaining polysomic individuals 13. Reference: 1.“Monosomy.” Dermatoglyphic comparisons have been carried out between 55 patients with Klinefelter’s syndrome (karyotype 47, XXY) and series of 50 control males and 50 control females. Turner syndrome is a chromosomal disorder that affects only females. Key Difference – Klinefelter vs Turner Syndrome Klinefelter syndrome is defined as the male hypogonadism that occurs when there are two or more X chromosomes and two or more Y chromosomes. He had the following history: The second of four children, he was born following an uncomplicated pregnancy and delivery. It involves a lack of part or all of a second sex chromosome in some or all cells. What are differences between klinefelter syndrome and down's syndrome? In rare instances, a coding error may occur when a cell divides during fetal development. As he grew, obesity and a moderate degree, Challenges in Clinical Electrocardiography, Clinical Implications of Basic Neuroscience, Health Care Economics, Insurance, Payment, Scientific Discovery and the Future of Medicine, United States Preventive Services Task Force. doi:10.1001/archinte.1974.00320200162024. pathology seminar mbbs student. © 2020 American Medical Association. Physical Symptoms. Parents and teachers can help them build vocabulary through a variety of techniques. In this condition, there is missin… LAB DIAGNOSIS N INVESTIGATION OF DIABETES MELLITUS. Down syndrome was first described by Dr John Langdon Down in 1866. No. Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. Examples include trisomy of chromosome 21, the primary cause of Down's Syndrome, inherited X-linked transmissions, and disomies such as Klinefelter's syndrome or monosomies like Turner's syndrome. 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