The condition causes males to have some femalelike physical features. Klinefelter syndrome 47,xxy was first described 70 years ago 1. Down syndrome, it is estimated that the risk of having a second child with down syndrome is about one in 100. Incidence of down syndrome and maternal age maternal age incidence of down syndrome 20 1 in 2000 24 1 in 0 27 1 in 1050 30 1 in 900 33 1 in 600 36 1 in 300 40 1 in 100. Learn more about the causes, symptoms, and treatment of klinefelter syndrome. Often, symptoms may be subtle and many people do not realize they are affected.
However, males with klinefelters syndrome have an extra x chromosome 47xxy and therefore a total of 47 chromosomes. Hal tersebut dipicu oleh perdarahan hebat atau tekanan darah yang sangat rendah selama atau setelah melahirkan. Three major features result from this vertebral fusion. Sindrom down adalah suatu kondisi dimana terdapat tambahan kromosom pada kromosom 21 atau dikenal juga dengan istilah trisomi 21 yang menyebabkan keterlambatan perkembangan fisik, ketidakmampuan belajar, penyakit jantung, tanda awal alzeimer, dan leukimia. Mar 29, 2016 this page was last edited on 22 february 2020, at 21. Sindrom klinefelter gejala, penyebab dan mengobati. Untuk alasan itu, mereka mungkin digambarkan sebagai pria dengan xxy atau pria dengan sindrom xxy. Klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome.
The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. Penyebab utama kondisi aneuploid adalah gagal pemisahan nondisjunction selama proses meiosis atau mitosis. Xxy aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Scores of 31 xxy men on the scale for interpersonal behavior and the autism spectrum questionnaire were compared to 24 and 20 control men respectively. Although nondisjunction can be of paternal origin, it is much less common. Perempuan yang normal memiliki pola kromosom 46, xx. Sementara lakilaki yang normal memiliki pola 46, xy. The initial number of patients with klinefelter syndrome was increased by a certain number of firstdegree relatives including parents, brothers and sisters but only for adults. Klinefelters syndrome is a genetic disorder found in males and affects male sexual development. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Klinefelter syndrome a medical dictionary, bibliography. Once it is diagnosed, treatment may help reduce symptoms.
This page was last edited on 20 january 2017, at 12. At least two of the chromosomes must be x chromosomes, and one must be a y chromosome. Boys may be taller than other boys their age, with more fat around the belly. Albright had let klinefelter put his name first on the publication and, consequently, the syndrome became known as ks, although klinefelter himself always credited albright with the discovery. Klinefelter s syndrome is a form of hypergonadotropic hypogonadism and infertility resulting from a supernumerary x chromosome 47,xxy, with an incidence of approximately 1 case in 500 phenotypic. Yet others, doctors, endocrinologists, national klinefelter groups feel i do have such expertise.
It is usually caused by a gene abnormality passed on from mother to son. Finally, it provides information to users on how to update their knowledge using various internet resources. Klinefelter syndrome klinefelter syndrome posted 21405 key points genetics klinefelter syndrome should be considered in boys with gynecomastia or hypogonadism. By the late 1950s, researchers discovered that men with this group of. Sindrom down, sindrom klinefelter, sindrom tuner, sindrom wolframes, ataksia friedreichs, chorea huntington, sindrom laurenc moon biled, distrofi miotonik. I also note you have not contributed to the klinefelter section one bit. Evolusi dalam islam written by agus agie sofyan thursday, 03 march 2011 08. Gejala utama sindrom ini adalah infertilitas dan ukuran testis yang kecil. Because klinefelter syndrome is a genetic disorder, it cannot be prevented. Ernanda, tanpa tahun penyebab klinefelter syndrome adalah lakilaki yang mempunyai satu kromosom x dan satu kromosom y. View klinefelter syndrome research papers on academia. Klinefelter syndrome specific cognitive deficits in language comprehension and executive functioning are part of the klinefelter syndrome phenotype. Feb 14, 2018 klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. Klinefelters syndrome is a form of hypergonadotropic hypogonadism and infertility resulting from a supernumerary x chromosome 47,xxy, with an incidence of approximately 1 case in 500 phenotypic.
The primary features are infertility and small poorly functioning testicles. Special education and various types of therapy can. Harry klinefelter and his coworkers first described the combination of features that has come to be recognized as klinefelter syndrome. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less. However, the age of the mother may also be a risk factor. Dotterskatz sk1, humphrey wm2, senz kl2, lee vr2, shaffer bl2, caughey ab2. Klinefelter syndrome ks is a condition that occurs in men who have an extra x chromosome. It is a condition in boys caused by the presence of an extra x chromosome. I also note you have not contributed to the klinefelter section one bit other than your criticisms. Before or shortly after birth early childhood adolescence adulthood. Germ cells do not survive in the testes, leading to decreased sperm and androgens. Sindrom sheehan adalah kondisi ketika kelenjar pituitari atau hipofisis mengalami kerusakan saat melahirkan. Commons is a freely licensed media file repository. Klinefelter syndrome definition, symptoms, treatment.
Some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Oct 24, 2006 the term klinefelter syndrome ks describes a group of chromosomal disorder in which there is at least one extra x chromosome to a normal male karyotype, 46,xy. The diagnosis of klinefelter syndrome will lead to the initiation of testosterone replacement therapy. The impact of prenatally diagnosed klinefelter syndrome on obstetric and neonatal outcomes. The extra x chromosomes are maternally derived in 60% of cases.
Sindrom klinefelter adalah kelainan genetik yang disebabkan oleh adanya salinan kromosom x tambahan. Klippelfeil syndrome is a bone disorder characterized by the abnormal joining fusion of two or more spinal bones in the neck cervical vertebrae. Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1500 live male births. For language access assistance, contact the ncats public information officer. If you have problems viewing pdf files, download the latest version of adobe reader. Diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Klinefelter syndrome can be diagnosed using genetic testing prenatally or later. The term klinefelter syndrome ks describes a group of chromosomal disorder in which there is at least one extra x chromosome to a normal male karyotype, 46,xy. Information from its description page there is shown below. There are approximately 250,000 men with ks in the united states, and the prevalence of ks in male reproductive practices is 3 to 4%.
Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Jan 17, 2015 ernanda, tanpa tahun penyebab klinefelter syndrome adalah lakilaki yang mempunyai satu kromosom x dan satu kromosom y. Sindrom klinefelter ks, juga dikenal sebagai 47,xxy atau sindrom xxy, adalah sekumpulan gejala yang disebabkan oleh dua atau lebih kromosom x pada lakilaki. Apr 20, 2010 klinefelter syndrome is a chromosomal abnormality characterized in 80% of cases by a set of chromosomes 47 xxy and 20% from xxxy karyotype, xxyy or frameworks such as mosaicism 47xxy46xx, 47xxy46xy, etc. Klinefelter syndrome genetic and rare diseases information. It is likely that many males with 47,xxy remain undiagnosed. Boys normally have one x and one y chromosome, but most boys with klinefelter syndrome have two x and one y chromosome. Sindromul klinefelter, boala genetica specific masculina.
Sindrom yang juga dikenal sebagai kondisi xxy, merupakan kondisi yang menggambarkan lakilaki yang memiliki kromosom x. All structured data from the file and property namespaces is available under the creative commons cc0 license. It occurs because of a random additional chromosome in the egg, sperm, or fetus. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. This file is licensed under the creative commons attributionshare alike 3. We examined specific social abilities and autism traits in klinefelter syndrome. In this study, we evaluated the physical and testicular failure phenotypes of infants and young boys with ks. Apr 29, 20 diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. It affects between 1 in 500 and 1 in 1,000 newborn males. Klinefelter syndrome stories stories of klinefelter syndrome tell your story and help others.
Klinefelter syndrome ks with the karyotype 47,xxy is one of the commonest types of congenital chromosomal disorder in males, with an incidence of 0. Your obsession with my actions are just not worth it. Sindrom sheehan gejala, penyebab dan mengobati alodokter. You may do so in any reasonable manner, but not in. Klinefelter syndrome is one of the most common chromosome conditions in newborns. Angka kejadian sindrom klinefelter di dunia berkisar antara 1 dalam 500 anak lakilaki. Klinefelter syndrome ks is a common genetic condition that is currently underdiagnosed. Klinefelter syndrome 47,xxy pediatrics merck manuals. Sindrom turner 45 xo wanita, tinggi badan 120 cm dewasa, steril, akibat nondisjunction gamet ibu sindrom klinefelter 47 xxy pria, steril, akibat nondisjunction gamet ibu atau ayah sindrom triple x 47 xxx wanita sindrom diplo y 47 xyy pria dengan sikap antisosial. Klinefelter syndrome klinefelter syndrome is suspected in males with developmental delay, hypogonadism, gynecomastia, or infertility.
Certain physical abnormalities and behavior problems are also present. Penyebab sindrom klinefelter adalah cacat dalam kromosom seks. It gives a complete medical dictionary covering hundreds of terms and expressions relating to klinefelter syndrome. Klinefelter syndrome ks is a common disorder that affects 1 in 500 male patients and results in testicular failure, androgen deficiency, and impaired spermatogenesis. Maternal age incidence of down syndrome 20 1 in 2000 24 1 in 0 27 1 in 1050 30 1 in 900 33 1 in 600 36 1 in 300 40 1 in 100 42 1 in 70 45 1 in 30 47 1 in 20 48 1 in 15 49 1 in 10 5. Klinefelter syndrome ks is the most common chromosomal aberration in men.
It results from an unequal sharing of sex chromosomes soon after fertilization. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with. You do not recommend new content, you do not offer improvments, you just insult. Klinefelter syndrome and other sex chromosomal aneuploidies. Alternative names xxy syndrome definition klinefelter syndrome is a genetic disorder that occurs in males who have three or more sex chromosomes. Social behavior and autism traits in a sex chromosomal. Sometimes symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, smaller genitals, breast growth.
The impact of prenatally diagnosed klinefelter syndrome on. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,xxyy and 48,xxxy. Sindromul klinefelter este o tulburare genetica ce afecteaza sexul masculin. Gejala sindrom klinefelter dapat sulit terlihat dan banyak orang tidak menyadari bahwa mereka memiliki gejala tersebut.
They believed that the hypogonadism arose primarily from failure of the. Klinefelter syndrome result from two or more x chromosome in males. Akibatnya, lakilaki yang dilahirkan dengan kondisi ini akan memiliki beberapa karakteristik perempuan. Klinefelter syndrome congenital defects jama internal. The cephalometric analisys of 40 subjects with klinefelter syndrome, with an age range from 5 to 58 years, were selected. Files are available under licenses specified on their description page. Klinefelter syndrome ks is characterized by the karyotype 47,xxy. Sindrom xyy wikipedia bahasa indonesia, ensiklopedia bebas.
Although klinefelter syndrome 47,xxy has been associated with psychosocial difficulties, knowledge of the social behavioral phenotype is limited. Kondisi ini mengakibatkan kariotip 47,xyy dan dapat ditemui dalam 1 dari 1. Heidelberg 1984 hormone human hypogonadal increased karyotype kline klinefelter boys klinefelter patients klinefelter syndrome klinefelters syn klinefelters syndrome lancet leg ulcers leydig cells mean meiotic mental mosaic munchen nefelters nielsen nistal nondisjunction. Oct 26, 2015 if you have problems viewing pdf files, download the latest version of adobe reader. Kelenjar hipofisis adalah kelenjar kecil yang terletak di bawah otak. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background. The syndrome can affect different stages of physical, language, and social development. Kromosom x tambahan ini mengganggu perkembangan seksual pria normal dalam rahim dan pada masa pubertas. Finally, it provides information to users on how to. Kromosom seks akan menentukan jenis kelamin seseorang. It is relatively common, occurring in about 1 of every 500 baby. Klinefelter syndrome ks is a common genetic condition, affecting one in 450 men. Variants of the disease with three, four, or more extra.
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