Talking with your child about his diagnosis of xxy. Cocukluktan eriskinlige klinefelter sendromlu erkege. Genellikle disiler iki x kromozomuna xx, erkekler bir x bir y kromozomuna xy sahiptir. 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. The syndrome can affect different stages of physical, language, and social development. Klinefelter syndrome, also referred to as xxy condition, is a genetic disease. Treatment includes educational, therapeutic, and medical therapy. Nov 01, 2012 klinefelter syndromea clinical update j clin endocrinol metab, january 20, 981. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Boys may be taller than other boys their age, with more fat around the belly. Klinefelter syndrome can cause problems with learning and sexual development in guys.
Sindromul klinefelter, boala genetica specific masculina. This guide offers some suggestions for talking with your son about xxy. I never refer to newborn babies as having klinefelter s, because they dont have a syndrome, said arthur robinson, m. Children with klinefelter syndrome usually have difficulty with expressive language, which is the ability to put thoughts, ideas, and emotions into words. Sometimes, symptoms are more prominent and may include weaker muscles, greater height.
The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when jacobs et al recognized that klinefelter. Klinefelter syndrome, disorder of the human sex chromosomes that occurs in males, one of the most frequent chromosomal disorders in males. Adolescent treated with implants of controlled release testosterone, has shown good results when appropriately monitored. People with this condition are born with at least one extra x chromosome. 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. The presence of an extra x chromosome in males most often occurs when the genetic material in the egg splits unevenly. It affects between 1 in 500 and 1 in 1,000 newborn males.
Klinefelter syndrome is the most common sex chromosome disorder, occurring in about 1500 live male births. Klinefelter sendromunun belirtileri ve tedavisi sagl. 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. Super erkek sendromlu erkeklerin ozellikleri nelerdir. The classical phenotype is that of a tall male with relatively long. Talking with your child about his diagnosis of xxy klinefelter syndrome consider talking to your childs doctor or therapist about your plans to disclose the diagnosis. 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. Instead of having the usual xy chromosome pattern that most males have, these men have an xxy pattern. Klinefelter sendromlu cogu erkek cok az sperm uretir ancak yard. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1. Variants of the disease with three, four, or more extra. Aug 23, 2018 please use one of the following formats to cite this article in your essay, paper or report. Review article klinefelter syndrome the commonest form of hypogonadism, but often overlooked or untreated eberhard nieschlag summary background.
Often, symptoms may be subtle and many people do not realize they are affected. Klinefelter sendromlu erkeklerde belirtiler yasa gore. Klinefelter sendromu nda ise erkeklerin birden fazla x kromozomu bulunmaktad. Medcram medical lectures explained clearly recommended for you. Parents and teachers of learning disabled children will find authoritative guidance on attention deficit disorder, add, adhd, dyslexia, dysgraphia, dyscalculia, dysnomia, reading difficulties, speech and related disorders.
Erkek infertilitesinin genetik nedenleri karyotip anomalileri. I never refer to newborn babies as having klinefelters, because they dont have a syndrome, said arthur robinson, m. But it can also occur when the genetic material in the sperm splits unevenly. Pdf klinefelter sendromlu azospermik olgularda testikuler sperm.
It has been calculated that men with klinefelter syndrome have a 15 to 20fold higher risk to acquire breast cancer 7, 12. The primary features are infertility and small poorly functioning testicles. Klinefelter syndrome is the presence of two or more x chromosomes plus one y, resulting in a phenotypic male. It happens because of a difference deep inside the bodys cells, in. Klinefelter syndrome 47,xxy was first described 70 years ago 1. Bu durumdaki erkeklerde daha az testosteron uretimi gerceklestigi icin, klinefelter sendromu olan erkeklerin testisleri kucuktur. Klinefelter syndrome usually is not diagnosed until the time of puberty. As part of a research study, we asked adults and parents of children with x or y.
It occurs if you are born with an extra x chromosome. Klinefelter syndrome definition, symptoms, treatment. To find out if your son has klinefelter syndrome, your doctor will ask questions about his past health, do a physical examination, and order a chromosome test called a karyotype. Ks has a genetic background, with characteristics involving numerous specialties. Ld online is the leading website on learning disabilities, learning disorders and differences. In 1942, klinefelter et al published a report describing nine men with a constellation of features. Some males with ks have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Most commonly, affected individuals are taller than average are unable to father biological children infertile.
Hepimizin bildigi gibi disiler iki x kromozomuna sahipken erkekler bir x ve bir y kromozomuna sahiptir. Klinefelter syndromea clinical update j clin endocrinol metab, january 20, 981. Klinefelter syndrome is a chromosomal disorder that affects only males. Xxyy sendromu, erkeklerin fazladan bir x ve y kromozomlar. It can cause a variety of problems, including a small penis, small testes and infertility. Some men with klinefelter syndrome have no symptoms. Klinefelter syndrome 47,xxy pediatrics merck manuals. Klinik ozelliklerinin degisiklik gostermesi ve bu sendromun hekimler tarafindan farkindaliginin yetersizligi neticesinde hastalann %50sinden fazlasi tanisiz kalmaktadir klinefelter sendromunun tipik klinik ozellikleri farkli seviyelerde hipogonadizm bulgulan, atrofik testisler ve jinekomastidir. Klinefelter syndrome netherlands pdf ppt case reports. At this point, the boys testicles fail to grow and you may start to notice other symptoms. Klinefelter syndrome ks, also known as 47, xxy is the set of symptoms that result from two or more x chromosomes in males. It was first described in 1942, with a number of additional conditions, characteristics, and abnormalities described in later publications. Klinefelter sendromu, erkeklerde fazladan bir x kromozom kopyas. Klinefelter syndrome is one of the most common chromosome conditions in newborns.
Mozaik klinefelter sendromu, infertilite, azoospermi. In contrast, their faculty for receptive language understanding what is said is close to normal. Pronunciation of klinefelter syndrome with 1 audio pronunciation, 4 synonyms, 1 meaning. 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 about one of every 500 males has an. Many parents wonder how and when they should tell their son about his diagnosis of xxy syndrome, also commonly called klinefelter syndrome. Normalde erkeklerde 1 adet x ve 1 adet y kromozomu bulunmaktad.
Klinefelter sendromu nedir xxy sendromu belirtileri. An average of 62 members are effected every year in netherlands. Children with klinefelter syndrome genetics home page. Klinefelter syndrome genetic and rare diseases information. Zeka geriligi, kalp yetmezligi, bobrekte anomaliler, gastrosizis, buyume geriligi, solunum guclugu. Feb 14, 2018 klinefelter syndrome ks is a condition that occurs in males when they have an extra x chromosome. The syndrome was first identified and described in 1942 by harry fitch klinefelter, jr. Pdf nadir gorulen 48,xxyy sendromlu olgu researchgate.
Its a genetic condition meaning a person is born with it. Edwards sendromu ile dogan bebekler, organ yetmezligi, zeka geriligi ve gelisim geriligi basta olmak uzere bircok hastal. Pdf on jun 1, 2016, mehmet zeynel keskin and others published klinefelter sendromlu azospermik olgularda testikuler sperm ekstraksiyonu tese basar. An average of 42 members are effected every year in finland. He may have advice on ageappropriate ways to talk with your son. Klinefelter sendromunun belirtileri ve tedavisi klinefelter sendromu, erkek cocuklar. Klinefelter syndrome, 47,xxy ks, occurs in about 150 per 100,000 males and is the most frequent chromosomal aberration in males.
Learn more about the causes, symptoms, and treatment of klinefelter syndrome. Pronunciation of klinefelter syndrome with 1 audio pronunciation, 4 synonyms, 1 meaning, 3 sentences and more for klinefelter syndrome. Ozet klinefelter sendromu erkeklerde en sik gorulen seks kromozom bozuklugudur. Klinefelter sendromu nedir, belirtileri ve tedavisi nelerdir gibi pek cok konunun yer ald. Cocukluktan eriskinlige klinefelter sendromlu erkege sistemik. Klinefelter syndrome ks is a common genetic condition, affecting one in 450 men. Ks has a genetic background, with characteristics involving numerous. Klinefelter syndrome occurs in about 1 out of 1,000 males.
It results from an unequal sharing of sex chromosomes soon after fertilization. Even though klinefelter syndrome is a genetic disorder. Harry klinefelter and his coworkers first described the combination of features that has come to be recognized as klinefelter syndrome. Klinefelter syndrome ks is the most frequent chromosome disorder in males 1. When a diagnosis is made, treatment is based on the signs and symptoms present in each person, especially the problems related to hypogonadism, gynecomastia, and psychosocial problems. Insan hucreleri genellikle anne ve babadan olmak uzere iki cinsiyet kromozomu icerir. Klinefelter syndromea clinical update the journal of. Sep 01, 20 ozet klinefelter sendromu erkeklerde en sik gorulen seks kromozom bozuklugudur. Cocukluktan eriskinlige klinefelter sendromlu erkege sistemik bak. By the late 1950s, researchers discovered that men with this group of. Klinefelter syndrome ks is a condition that occurs in men who have an extra x chromosome. Klinefelter sendromu kenai resources in 2020 check out klinefelter sendromu image collection you may also be interested in the klinefelter sendromu nedir also klinefelter sendromu tipleri.
Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Mozaik 47,xxy48,xxxy kromozom kurulusunda klinefelter. May 23, 2017 klinefelter syndrome is one of the most common chromosome conditions in newborns. Klinefelter syndrome is a genetic condition affecting males. Because symptoms of klinefelter syndrome ks can sometimes be very mild, many people are never diagnosed or treated.