An analysis of chromosome variation in klinefelter syndrome
Understanding klinefelter syndrome 1 what is klinefelter syndrome klinefelter syndrome is the most common cause of male infertility it is a sex chromosome variation that occurs in 1 in 500 males most men do not demonstrate symptoms normally, males have one x chromosome in their through a fetal cytogenetic analysis. The 47,xyy sex chromosome variation is the most common sex chromosome anomaly after klinefelter syndrome (47,xxy), 1 – 3 occurring in approximately 1 out of 1000 live male births 4, 5 parental nondisjunction at meiosis ii resulting in an extra y chromosome produces a 47,xyy karyotype in the affected offspring 6 – 8 46,xy/47,xyy mosaics from parental nondisjunction during cell division. An analysis of chromosome variation in klinefelter syndrome pages 2 words 930 view full essay more essays like this: klinefelter syndrome, analysis of chromosome variation, testicular dysgenesis, dr harry klinefelter not sure what i'd do without @kibin klinefelter syndrome, analysis of chromosome variation, testicular dysgenesis, dr. An analysis of chromosome variation in klinefelter syndrome 930 words 2 pages klinefelter syndrome, the testicular dysgenesis and infertility 930 words 2 pages the symptoms and effects of klinefelter syndrome, a genetic disorder affecting males 410 words 1 page an overview of the infamous klinefelter syndrome 364 words 1 page.
The sex chromosomal variation may be detected prenatally by chromosome analysis of chorionic villus sample cells and amniocentesis every male with a history of infertility should be a candidate for chromosomal analysis to rule out 47,xxy karyotype. Klinefelter syndrome (ks 47,xxy) has a prevalence ranging fro m 85 to 250 per 100000 liveborn males making it the most frequent sex chromosome a neuploidy in the general population 1 ethnic di. Pathophysiology ch 4 ut mda shp study play dna directs the synthesis of all of the body's proteins chromosome abnormalities are the leading cause of mental retardation and miscarriage what is the chromosomal variation that causes klinefelter syndrome a nondisjunction of the x chromosome in the father.
X & y variations is a neurogenetic disorder known by many names, among them: sex chromosome disorders, x & y chromosomal variations, sex chromosome anomaly and sex chromosome aneuploidy variations within the disorder are many sub-categories, which are identified by names including 47, xxy (klinefelter syndrome), 49, xxxxy, tetrasomy x, 49. Klinefelter syndrome chromosome pattern smaller than usual testes, chromosome analysis may lead to a diagnosis of this condition 9 problems with physical co-ordination for boys with rare variations of ks, which include a number of extra “x” chromosomes (xxxy and xxxxy), learning problems can be greater and. Klinefelter syndrome (ks) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty during childhood, and even during early puberty, pituitary-gonadal function in 47,xxy subjects is relatively normal, but from midpuberty onwards, fsh and lh levels increase to hypergonadotropic levels, inhibin b decreases to undetectable levels, and. Klinefelter syndrome is the most frequent sex chromosomal disorder in males, and in the vast majority of patients, the aberrant karyotype is 47,xxy, with more seldom occurrence of additional x-chromosomes or mosaicisms.
Xxyy syndrome is a sex chromosome anomaly in which males have an extra x and y chromosome human cells usually contain two sex chromosomes, one from the mother and one from the father usually, females have two x chromosomes (xx) and males have one x and one y chromosome (xy. Klinefelter syndrome is a condition related to the sex chromosomes (x and y chromosomes) klinefelter syndrome is caused by an additional x chromosome people typically have two sex chromosomes in each cell: females have two x chromosomes (46,xx), and males have one x and one y chromosome (46,xy. Klinefelter syndrome is a rare form of the chromosomal disorder that arises from abnormalities in the x chromosome the disease is also known as 47, xxy or simply xxy the disease is also known as 47, xxy or simply xxy. Klinefelter syndrome can be diagnosed through genetic testing, semen analysis and blood tests to measure hormones treatments treatment with testosterone and/or a medicine to prevent excess estrogen production may be given to help normalize secondary sexual development and improve libido, strength, mood and thinking.
Causes • klinefelter syndrome is a genetic disorder in which there is at least one extra x chromosome to a standard human male karyotype, for a total of 47 chromosomes rather than the 46 found in genetically typical humans. Klinefelter syndrome is a chromosome disorder that affects males it is not an inherited disorder a male with klinefelter syndrome has an additional x chromosome, which causes infertility, low testosterone and other characteristics such as development of breast tissue the chromosomes are present. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the x chromosome klinefelter syndrome is a common genetic condition affecting males, and it often isn't diagnosed until adulthood klinefelter syndrome may adversely affect testicular growth, resulting. Background: clinical phenotype in klinefelter syndrome shows utmost contrariety according tothe genetic presentation the karyotype 47, xxy is one of the commonest types of sex chromosomal.
An analysis of chromosome variation in klinefelter syndrome
Chromosome analysis national dna day april 25, 2005 syndrome z the extra chromosome leads to the specific characteristics of down syndrome, some of which as klinefelter syndrome klinefelter syndrome z affects about 1 in 1000 males z most males are taller than average and may have a. Klinefelter syndrome is a common genetic cause of male infertility however, this syndrome often remains undiagnosed because of the variation in clinical presentation and insufficient awareness of the syndrome itself. The most common sex chromosome abnormality the most common cause of male hypogonadism and infertility characterized by the addition of at least one extra x chromosome to a 46,xy male karyotype most descriptions refer to 47,xxy karyotype over 50% of males with klinefelter syndrome have 47,xxy.
- The genetic cause of klinefelter syndrome is the presence of one or more extra copies of the x chromosome in a male's cells extra copies of genes on the x chromosome interfere with male sexual development, preventing the testicles from functioning normally and reducing the levels of testosterone.
- Klinefelter’s syndrome is the most common cause of testicular failure that results in impairments in both spermatogenesis and—to a lesser extent—testosterone.
Chromosome analysis is appropriate for individuals with clinical features including infertility, multiple miscarriages, delayed puberty, ambiguous genitalia, amenorrhea, or individuals with clinical features suggestive of an aneuploidy syndrome, including down syndrome, turner syndrome, klinefelter syndrome, trisomy 13 syndrome, and trisomy 18. Klinefelter syndrome or klinefelter's syndrome, also 47,xxy or xxy syndrome, is a genetic disorder in which there is at least one extra x chromosome to a standard human male karyotype, for a total of 47 chromosomes rather than the 46 found in genetically normal humans. Klinefelter syndrome (ks) also known as 47,xxy or xxy, the standard diagnostic method is the analysis of the chromosomes' karyotype on lymphocytes in the past, the genetic variation is irreversible, but individuals who want to look more masculine can take testosterone. Therefore, an abnormal number of x chromosomes—loss of an x chromosome in females (turner syndrome) or gain of an extra chromosome in males (klinefelter syndrome)—can lead to profound imbalances in gene dosage on the x chromosome and thus to non-standard phenotypes in humans.