Karyotype klinefelter syndrome. Medical search. Frequent questions

The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46. (wikipedia.org)
The main difference between Turner Syndrome and Klinefelter Syndrome is that Turner Syndrome is the change in the genetic chromosomes in females while a Klinefelter Syndrome is a change in ancestral chromosomes in men. (difference.wiki)
The severity of the condition varies, depending on one's Down syndrome karyotype, which is the organized profile of an individual's chromosomes. (newhealthadvisor.org)
The organized profile of an individual's chromosomes is known as a karyotype. (newhealthadvisor.org)
The Down syndrome karyotype shows a total of 47 chromosomes instead of 46 (normally made up of 23 pairs of chromosomes). (newhealthadvisor.org)
It is defined classically by a 47,XXY karyotype with variants that demonstrate additional X and Y chromosomes. (medscape.com)
Klinefelter syndrome refers to a collection of characteristics in males that are caused by having two or more X chromosomes. (healthymale.org.au)
The collection of chromosomes in an organism's cells is known as its karyotype. (healthymale.org.au)
The usual human karyotype is made up of 22 pairs of chromosomes called autosomes (which are the same in males and females) and a pair of sex chromosomes (resulting in a total of 46 chromosomes). (healthymale.org.au)
Emanuel syndrome (ES), caused by an unbalanced translocation between chromosomes 11 and 22, has lacked a reliable prenatal screening option for families with a carrier parent. (bvsalud.org)
General designation for syndromes due to chromosomal aberrations, typically associated with mental … Thus, there are normally 23 pairs of chromosomes in the fertilized egg. (solarpoultry.com)
These include conditions such as Klinefelter syndrome (47, XXY) and exchanges of genetic material in non-sex chromosomes and are detected by blood tests. (wellinghomeopathy.com)
Klinefelter syndrome is a genetic condition that affects males by causing them to be born with one or more extra X chromosomes. (ro.co)
But males born with Klinefelter syndrome have an extra copy of the X chromosome, or sometimes multiple extra X chromosomes. (ro.co)
Anomalies in the number of sexual chromosomes (X/Y aneuploidies), such as seen in Turner, Klinefelter and other syndromes, may be present in all the patient's cell or just in some. (bredagenetics.com)
Increased germ cell defects have been reported for chromosomes 21 22 X and Y [15 16 Klinefelter syndrome (KS karyotype 47 XXY) is the most common chromosomal aberration detected in up to 14% of infertile patients with azoospermia [17]. (biobender.com)

It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s. (wikipedia.org)
Klinefelter syndrome was first identified by DR. Harry Klinefelter in 1940. (difference.wiki)
Klinefelter's Syndrome is a genetic condition that was named after Dr Harry Klinefelter, a Baltimore endocrinologist. (ksa-uk.net)

Until 1996, men with Klinefelter syndrome were considered infertile. (medscape.com)
This is because even for those with mild symptoms, most men with Klinefelter syndrome produce very few or no sperm and are infertile . (healthymale.org.au)
Rarely infertile men with normal karyotype have chromosome aberrations in sperm [16]. (biobender.com)
47 XYY syndrome This syndrome occurs in 1:1000 men but is more common among infertile males [15 17 Infertile men with the 47 XYY karyotype are otherwise healthy. (biobender.com)

A form of primary testicular failure occurs in males with Klinefelter Syndrome, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland. (medscape.com)
An estimated 50% of males with Klinefelter syndrome can produce sperm. (wikipedia.org)
A small percentage of males with Klinefelter syndrome are diagnosed before birth. (mayoclinic.org)
Klinefelter males, on the other hand, have at least one spare X - so the make-up of Klinefelter cells will be XXY. (sharedjourney.com)
Klinefelter males are born with the condition. (sharedjourney.com)
Although some Klinefelter males will exhibit symptoms of the condition from boyhood, many don't realize that they have the condition until they try as adults to become fathers. (sharedjourney.com)
Unfortunately, the infertility aspect of Klinefelter's is rarely treatable, although some Klinefelter males have become Dads thanks to an assisted reproduction technique called ICSI . (sharedjourney.com)
In Turner syndrome, females have undeveloped breast while in Klinefelter syndrome males have enlarged breast. (difference.wiki)
In Turner syndrome, uterus, vagina, and vulva are present, but they can not begin the period and do not produce child while in case of Klinefelter syndrome males have less developed and small testes, penis, vasa deferens so no functional sperm are produced. (difference.wiki)
Klinefelter syndrome is responsible for the less production of testosterone, the hormone which is essential for the primary characteristics of the males. (difference.wiki)
Klinefelter syndrome is a common ancestral state that affects males. (difference.wiki)
Klinefelter Syndrome often referred to as XXY trisomy, XXY syndrome, and Klinefelter's Syndrome is a chromosomal disorder exclusively associated with males having one or more of the X chromosome than the normal 'XY' pattern. (hxbenefit.com)
The number of males with Klinefelter syndrome is not known 2 . (healthymale.org.au)
The effects of Klinefelter syndrome vary between males with the condition 1 . (healthymale.org.au)

The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. (medscape.com)

Tortoiseshell male cats do, however, occur at a low frequency among tortoiseshell cats because of chromosome aberrations similar to the Klinefelter syndrome in man: the extra X chromosome of a 39,XXY karyotype introduces the possibility of an orange and a non-orange allele which produce the mixture of orange and non-orange coat spotting known as tortoiseshell. (karger.com)

Blood or urine samples can reveal abnormal hormone levels that are a sign of Klinefelter syndrome. (mayoclinic.org)
Each year, about 6,000 babies are born in the United States with Down syndrome, a disorder caused by abnormal cell division that results in an extra chromosome, specifically chromosome 21. (newhealthadvisor.org)
It also determines the sex of an individual and can help diagnose abnormal conditions such as the Down syndrome. (newhealthadvisor.org)
Besides Down syndrome karyotype, there are other genetic conditions that result from abnormal karyotypes. (newhealthadvisor.org)
Whether the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or due to abnormal function of X chromosome linked genes is unclear. (medscape.com)
Platelets in patients with the syndrome have abnormal aggregation with collagen, thrombin, epinephrine, and adenosine diphosphate (ADP). (giiresearch.com)
The main effect of Klinefelter syndrome is abnormal growth and development of the testicles (testes). (ro.co)
Their testis histology show germ cell degeneration while serum levels of hormones are abnormal with a decline in testosterone level and elevated follicle-stimulating hormone (FSH) and luteinizing hormone (LH) [12 17 18 The 47 XXY karyotype accounts for nearly 90% of the patients while other variants are rare [17]. (biobender.com)
It has been shown that germ cells with an extra Y chromosome from men with the 47 XYY karyotype have abnormal meiotic pairing suggesting disrupted meiosis eventual sperm apoptosis and subsequent oligozoospermia and infertility [15 16 Structural chromosomal abnormalities (SCAs) include deletions duplications translocations (balanced imbalanced and Robertsonian) and inversions. (biobender.com)

Embryos can have an extra sex chromosome, as seen in Klinefelter syndrome, which is characterized by XXY karyotype. (mdedge.com)

Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. (mayoclinic.org)

A case of Klinefelter syndrome with retroperitoneal teratoma. (elsevierpure.com)
Dive into the research topics of 'A case of Klinefelter syndrome with retroperitoneal teratoma. (elsevierpure.com)

These treatments can help boys with Klinefelter syndrome who have problems with speech, language and muscle weakness. (mayoclinic.org)
Some boys with Klinefelter syndrome have trouble learning and socializing and can benefit from extra assistance. (mayoclinic.org)
Boys with Klinefelter syndrome might start puberty but then it stops. (healthymale.org.au)
Testosterone treatment might be prescribed for boys with Klinefelter syndrome who have a very small penis. (healthymale.org.au)
Monitoring the growth and hormone function of boys with Klinefelter syndrome in the lead-up to puberty helps guide decisions about testosterone treatment, which may become necessary. (healthymale.org.au)

Researchers believe that up to 65 percent of people with Klinefelter syndrome are never diagnosed. (medlineplus.gov)
Klinefelter syndrome can make it difficult for people with this condition to have biological children (a condition called infertility), but up to half of people with Klinefelter syndrome may be able to have children using assisted reproductive technologies. (medlineplus.gov)
People with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves. (medlineplus.gov)
People with Klinefelter syndrome very rarely have intellectual disabilities. (medlineplus.gov)
People with Klinefelter syndrome are more likely than those without Klinefelter syndrome to have autism spectrum disorder , which is a developmental disorder that affects communication and social interaction. (medlineplus.gov)
People with Klinefelter syndrome have an increased risk of developing metabolic syndrome, which is a group of conditions that include high blood glucose levels during prolonged periods without food (fasting), high blood pressure ( hypertension ), increased belly fat, and high levels of fats (lipids) such as cholesterol and triglycerides in the blood. (medlineplus.gov)
In 85% of cases, people with Klinefelter syndrome are born with one additional X chromosome. (ro.co)
That said, some experts suspect that many people with Klinefelter syndrome are never diagnosed-because their symptoms are very mild-so the true prevalence may be much higher (Kanakis, 2018). (ro.co)
Many people with Klinefelter syndrome are not diagnosed until after puberty because the symptoms usually do not appear before then. (ro.co)
Because of this, people with Klinefelter syndrome may be more likely to struggle in school and in the workplace. (ro.co)

Individuals with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). (medlineplus.gov)
Klinefelter syndrome is characterized by hypogonadism (micro-orchidism [small testes], oligospermia/azoospermia), gynecomastia in late puberty, hyalinization and fibrosis of the seminiferous tubules, elevated urinary gonadotropin levels, and behavioral concerns. (medscape.com)
Adult Klinefelter men may have smaller-than-average testes . (sharedjourney.com)
This syndrome mainly affects the testes of an individual. (difference.wiki)
Symptoms of Klinefelter syndrome are smaller testes, less production of testosterone. (difference.wiki)
In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. (medscape.com)
The syndrome is usually identified at puberty, when inadequate sexual development is noted (typically very small, firm testes), or later, when infertility is investigated. (msdmanuals.com)
In bilateral anorchia (vanishing testes syndrome), the testes were presumably present but were resorbed before or after birth. (msdmanuals.com)
Hormonal imbalance with excessive estrogen stimulation is associated with the etiology of MBC, which occurs in men with undescended testes, congenital inguinal hernia, orchiectomy, orchitis, testicular injury, infertility and Klinefelter's syndrome. (gotoper.com)
3 Klinefelter's syndrome, which is characterised by the 47XXY karyotype, small testes and gynecomastia, is associated with a 50-fold elevated risk. (gotoper.com)

During puberty, the physical traits of the syndrome become more evident - because these boys do not produce as much testosterone as other boys, they have a less muscular body, less facial and body hair, and broader hips. (wikipedia.org)
Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. (mayoclinic.org)
Note - since KS can be hard to notice, many parents don't know their child has the syndrome until he shows delays in puberty. (healthguidenet.com)
However, because of functioning normal ovarian tissue, most people experience breast development at puberty, and approximately two-thirds of those with a 46,XX peripheral karyotype menstruate. (medscape.com)

KS is diagnosed by the genetic test known as a karyotype. (wikipedia.org)

In 1942, Klinefelter et al published a report describing nine men with a constellation of features: testicular dysgenesis, microorchidism, eunuchoidism, gynecomastia, elevated urinary gonadotropins, and azoospermia. (medscape.com)
Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)

If you or your son is diagnosed with Klinefelter syndrome, your health care team may include a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist. (mayoclinic.org)
This chromosomal condition was first observed and documented by Harry Fitch Klinefelter Jr, an American endocrinologist, and rheumatologist in the 40s, and hence its name. (hxbenefit.com)

An almost certain consequence of having the syndrome is permanent infertility. (sharedjourney.com)
See our section on Klinefelter treatment, under Male Infertility: Drugs and Treatment, for more information. (sharedjourney.com)
Treatment of this syndrome is also hormone therapy and infertility treatment in some cases. (difference.wiki)
Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism and infertility. (medscape.com)
Bridging the Gap between AZF Microdeletions and Karyotype: Twelve Years' Experience of an Infertility Center. (cdc.gov)

The signs and symptoms of Klinefelter syndrome vary. (medlineplus.gov)
Treatments are available for some symptoms of Klinefelter syndrome - for example, testosterone therapy can help men who have some feminine features. (sharedjourney.com)
Symptoms of Klinefelter syndrome can be so mild in some individuals that they, their parents, and their doctors may not even realise they have the condition. (healthymale.org.au)
The symptoms of Klinefelter syndrome stem from a lower-than-normal production of testosterone , and the effects the extra X chromosome(s) have on the body's development and function. (healthymale.org.au)

Fragile X Syndrome Genetics  PCR/Southern blot: No. of trinucleotide CGG repeats FMR1 gene o Normal: 5-44 Intermediate "gray zone": 45-54 o Premutation carrier: 55-200 Full mutation: >200  Genetic Anticipation: Maternal premutation carrier transmits unstable FMR1 allele to offspring. (kipdf.com)
Prader-Willi Syndrome Genetics  Genotype-Phenotype correlations o Type I deletions: more compulsions, poorer adaptive skills, lower IQ and lower academic achievement  75% microdeletion paternal chromosome 15q11.2-q13. (kipdf.com)

It is named after Dr. Henry Klinefelter who first discovered the syndrome in 1942 and was able to link the symptoms back to men with an extra X chromosome. (clinicforhim.com)

Throughout their development, the syndrome prevents their bodies from producing enough of the male sex hormone testosterone. (sharedjourney.com)
It is worthwhile to note that less than normal testosterone production is mainly behind the various problems attributable to Klinefelter Syndrome. (hxbenefit.com)
Testosterone treatment is recommended to many adults with Klinefelter syndrome. (healthymale.org.au)
If you have Klinefelter syndrome and are not receiving testosterone treatment, your hormonal function should be checked every 12 months. (healthymale.org.au)
In addition to its impact on development and fertility, Klinefelter syndrome is associated with many health problems, mainly due to reduced testosterone levels. (healthymale.org.au)
Testosterone treatment to achieve levels like those in men without Klinefelter syndrome minimises the risk of health problems 3 . (healthymale.org.au)

Individuals with Turner syndrome are monosomy 45X (2n-1) as one X chromosome is deleted while an individual with Klinefelter syndrome is trisomy 47X (2n+1) as one X chromosome is extra. (difference.wiki)
In most affected patients, this karyotype is found in all cells (trisomy). (newhealthadvisor.org)
Edwards syndrome is also known as trisomy 18, because the baby has an extra chromosome 18 in all or some of their body cells. (newhealthadvisor.org)
Trisomy 21, also referred to as Down's syndrome, is a chromosomal aberration characterized by the presence of an additional chromosome 21.Trisomy 21 is associated with a rate of incidence of 1:600 among newborns and is one of the most common chromosomal … However, they can also have detrimental effects. (solarpoultry.com)
Dusk - created for Trisomy 13 (Patau Syndrome). (solarpoultry.com)
New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XXY. (cdc.gov)

Klinefelter syndrome occurs randomly. (wikipedia.org)
Klinefelter Syndrome is a genetic change that occurs when a boy is born with an extra copy of the X chromosome. (difference.wiki)
Down syndrome occurs when cell division involving chromosome 21occurs abnormally, causing an extra chromosome to be produced. (newhealthadvisor.org)
Klinefelter Syndrome (KS) is a condition that only occurs in men as a result of an extra X chromosome. (clinicforhim.com)
Klinefelter syndrome (47, XXY) is a condition that occurs in men who have an extra X chromosome, resulting in an XXY sex chromosome karyotype. (healthguidenet.com)

Most men with Klinefelter syndrome are typically unable to father children because few or no sperm are produced in the testicles. (mayoclinic.org)
In addition, 2% of men with low counts and 15-20% of men with no sperm counts will harbor chromosomal abnormalities detected by cytogenetic analysis (karyotype). (wellinghomeopathy.com)
Although the sperm of Klinefelter men usually have a normal 23 X or 23 Y haploid genome an increased rate of autosomal and sex chromosome aneuploidies was reported in KS men's offspring [19]. (biobender.com)
If an XY sperm fertilises an X egg or a Y sperm fertilises an XX egg the result will be the KS chromosome pattern (karyotype) 47, XXY instead of 46, XY. (ksa-uk.net)

Gonadal dysgenesis with XY karyotype in patients with female phenotype. (unito.it)
female phenotype and male karyotype 46,XY (no male development due to androgen receptor defect). (chrx-str.org)

Klinefelter Syndrome Klinefelter syndrome is a relatively common chromosomal abnormality characterized by hypogonadism, azoospermia, and elevated gonadotropin levels in association with a 47,XXY karyotype. (health.am)

Klinefelter syndrome, also called 47,XXY, is a chromosomal condition that affects development in people who are assigned male at birth. (medlineplus.gov)
Klinefelter syndrome affects about 1 in 650 newborns who were assigned male at birth. (medlineplus.gov)

Turner syndrome is the genetic abnormality of females while Klinefelter syndrome is a genetic abnormality of men. (difference.wiki)
On average for every 2500 girls born around the world, one of them have Turner syndrome. (difference.wiki)
Turner syndrome was discovered by Dr. Henry turner in 1938. (difference.wiki)
Turner syndrome only affects girls. (difference.wiki)
Turner syndrome is not inherited, parental or environmental but this syndrome is due to sudden changes in the genetic material or changes in chromosome number. (difference.wiki)
The Girls with Turner syndrome have second X chromosome missing (45X), and because of this, the body develops differently. (difference.wiki)
Turner syndrome is diagnosed after birth. (difference.wiki)
What is Turner syndrome? (difference.wiki)
Turner Syndrome is the condition of a chromosome that changes the development of females.females with one missing X chromosome is termed as Turner syndrome. (difference.wiki)
Girl with Turner syndrome also has other physical changes as webbed neck, puffiness of hands and feet, heart defects and kidney problems. (difference.wiki)
Treatment of Turner syndrome is hormone therapy in which growth hormones injections are given to affected girls. (difference.wiki)
Two main clinical features of the individual like short stature and lack of development of ovaries are the points of diagnosis of Turner syndrome. (difference.wiki)
We aimed to investigate change over time in incidence, prevalence and age at diagnosis among Turner syndrome (TS), Klinefelter syndrome (KS), Triple X syndrome (Triple X) and Double Y syndrome (Double Y). (biomedcentral.com)

Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. (medscape.com)
Cytogenetic study of his peripheral lymphocytes revealed that his karyotype was consistent with KS. (elsevierpure.com)
The Danish Cytogenetic Central Registry (DCCR) holds information on all karyotypes performed in Denmark since 1961. (biomedcentral.com)

The rise in the prevalence of Hermansky Pudlak syndrome is one of the key factors that help the market to grow during the forecast period. (giiresearch.com)
For instance, according to an updated article published at NCBI Hermansky-Pudlak syndrome (HPS) is rare, with a prevalence of 1 to 9 in 1,000,000 individuals worldwide but is more common in certain populations. (giiresearch.com)

Today, the term Klinefelter syndrome (KS) refers to a group of chromosomal disorders in which the normal male karyotype, 46,XY, has at least one extra X chromosome. (medscape.com)
Klinefelter syndrome is a genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype. (transiness.com)

Centerwall WR, Benirschke K: An animal model for the XXY Klinefelter's syndrome in man: tortoiseshell and calico male cats. (karger.com)
This book presents the latest insights into all the critical aspects of Klinefelter's Syndrome, in order to promote a more homogeneous a medical approach to this condition, leading to better and more "evidence-based" support, and improving patient satisfaction. (stanford.edu)
By the late 1950s other researchers discovered that subjects with Klinefelter's Syndrome (KS)/XXY had an extra sex chromosome. (ksa-uk.net)
Some XXY people believe that they do not suffer from Klinefelter's Syndrome while others have been diagnosed with KS despite not having the extra chromosome. (ksa-uk.net)

The syndrome can also affect the way a male's body develops ( Kanakis, 2018 ). (ro.co)
Still, many people with the syndrome may not know they have it because their symptoms are mild or unnoticeable (Kanakis, 2018). (ro.co)
Some research has found that people with the syndrome may also be more prone to anxiety and depression ( Skakkebæk, 2018 ). (ro.co)

Karyotype analysis on peripheral blood lymphocytes, the XCAT-KS buccal swab test, fluorescence in-situ hybridization (FISH), and microarrays are options for postnatal diagnostic testing. (medscape.com)
This diagnostic nomenclature is applied regardless of the peripheral karyotype. (medscape.com)

If you have Klinefelter syndrome and want to start a family, it might be possible for a fertility specialist to help you by using assisted reproductive technology (ART). (healthymale.org.au)

[ 1 ] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a chromosomal disorder in which there is an extra X chromosome, resulting in the karyotype 47,XXY. (medscape.com)

Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)
Klinefelter syndrome is the most common genetic form of male hypogonadism. (medscape.com)

Klinefelter syndrome, idic(Y), XX-male), and variants in the CFTR gene (in case of CBAVD). (radboudumc.nl)
i.e. azoospermia and oligozoospermia [6 11 12 15 The aberrations include numerical defects such as the XYY karyotype in Klinefelter syndrome or its variants and structural rearrangements Robertsonian translocations balanced reciprocal AVL-292 translocations and inversions. (biobender.com)

Children with Klinefelter syndrome may have low muscle tone (hypotonia), difficulty coordinating movements, and mild delays of certain developmental skills, such as rolling over or walking. (medlineplus.gov)
THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests. (kipdf.com)
THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests.org Gene Reviews  Cassidy SB and Allanson JE. (kipdf.com)
Objectives  Recognize features of common genetic syndromes associated with developmental disabilities. (kipdf.com)
Become familiar medical problems associated with these syndromes and their developmental/behavioral outcomes. (kipdf.com)
90% have developmental disability  20% have autism  Communication disorder o Delayed speech o Severe hypernasality leads to poor articulation and atypical pattern of language development o May appear apraxic or dyspraxic  Increased psychiatric disorders o Bipolar, schizophrenia, mood disorders DDX  Cayler Cardiofacial Syndrome (asymmetric crying facies +conotruncal cardiac malformation): also 22q11.2 deletion  CHARGE Syndrome also features congenital heart disease, immunodeficiency, hypocalcemia, and hearing loss. (kipdf.com)
Along with these developmental and reproductive symptoms, Klinefelter syndrome can lead to changes in how a person's brain forms and develops. (ro.co)
Autism spectrum disorders (ASDs) are pervasive developmental disorders that include autism, Asperger syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS). (biomedcentral.com)

Karyotyping is recommended, especially in azoospermia and severe oligozoospermia cases. (radboudumc.nl)

The association of Klinefelter syndrome and mediastinal nonseminomatous germ cell tumors is now well recognized. (health.am)
Four of 22 consecutive patients (18%) treated at Indiana University for primary mediastinal germ cell tumors had karyotypic confirmation of Klinefelter syndrome, and an additional patient had clinical features. (health.am)
The average age of patients with Klinefelter syndrome who develop extragonadal germ cell tumors is approximately 18 years, 10 years younger than the median age of those developing this tumor in the absence of Klinefelter syndrome. (health.am)
Klinefelter syndrome (KS) is often associated with various neoplasms, especially germ cell tumors. (elsevierpure.com)
Also, the syndrome is linked with an increased risk for breast cancer, varicose veins, lung disease, extragonadal germ cell tumor, and osteoporosis. (healthguidenet.com)

Objective: To report the rare case of a patient with Complete Androgen Insensitivity Syndrome (CAIS) with Klinefelter Syndrome (KS) (47, XXY) presenting a Sertoli/Leydig cell tumor discovered during the gonadectomy. (remedypublications.com)

In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). (medscape.com)

This diagnostic nomenclature is applied regardless of the patient's karyotype. (medscape.com)

is seminiferous tubule dysgenesis associated with the 47,XXY karyotype, in which an extra X chromosome is acquired through maternal or, to a lesser extent, paternal meiotic nondisjunction. (msdmanuals.com)

The syndrome might be identified in pregnancy during a procedure to examine fetal cells drawn from the amniotic fluid (amniocentesis) or placenta for another reason - such as being older than age 35 or having a family history of genetic conditions. (mayoclinic.org)

In a nutshell, men with Klinefelter syndrome have an extra X chromosome. (sharedjourney.com)
This syndrome is diagnosed by the presence of one extra X chromosome. (difference.wiki)
Klinefelter Syndrome is the result of an extra X chromosome (XYX). (clinicforhim.com)
Down Syndrome - Extra chromosome at position 21. (solarpoultry.com)

Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births. (wikipedia.org)

Klinefelter syndrome is the most common genetic disorder in men. (sharedjourney.com)
Osteoporosis (weakening of the bones) is common complication of Klinefelter syndrome. (sharedjourney.com)
Down syndrome is a common genetic disorder that affects about 400,000 Americans. (newhealthadvisor.org)
How common is Klinefelter syndrome? (ro.co)
The syndrome seems to be relatively common compared to other chromosome disorders. (ro.co)

Introduction: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced responsiveness of target tissues to thyroid hormone (TH). (endocrine-abstracts.org)

Anatomy5

Diseases15

Chemicals and Drugs1

Analytical, Diagnostic and Therapeutic Techniques and Equipment4

Psychiatry and Psychology1

Phenomena and Processes10

Anthropology, Education, Sociology and Social Phenomena1

Information Science1

Named Groups2

Health Care1

Chromosomes16

Harry Klinefelter3

Infertile4

Males14

Male karyotype results in variable1

Chromosome aberrations1

Abnormal9

Seen in Klinefelter syndrome1

Diagnosis of Klinefelter syndrome1

Case of Klinefelter syndrome2

Boys with Klinefelter syndrome5

People with Klinefelter syndrome10

Testes10

Puberty4

Known as a karyotype1

Testicular2

Endocrinologist2

Infertility5

Symptoms of Klinefelter4

Genetics2

19421

Testosterone6

Trisomy6

Occurs5

Sperm4

Phenotype2

Characterized by hypogonadism1

Assigned male2

Turner13

Cytogenetic3

Prevalence2

Least one extra X chromosome2

Klinefelter's Syndrome4

20183

Peripheral2

Fertility1

Chromosomal disorder1

Hypogonadism2

Variants2

Developmental8

Azoospermia1

Germ5

Sertoli1

Genotype1

Patient's1

Dysgenesis1

Genetic conditions1

Extra4

Births1

Common5

Hormone1