Living with Klinefelter Syndrome (47,XXY) Trisomy X (47,XXX) and 47,XYY

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Many experience severe acne during adolescence. Additional symptoms may include learning disabilities and behavioral problems such as impulsivity. Intelligence is usually in the normal range, although IQ is on average points lower than siblings. In the past, there were many misconceptions about this disease. It was sometimes called the super-male disease because men with this syndrome were thought to be overly-aggressive and lacking in empathy. Recent studies have shown that this is not the case.

Human genetic disease - Abnormalities of the sex chromosomes | Britannica

Although individuals with XYY syndrome have an increased risk for learning disabilities and behavioral problems, they are not overly aggressive, nor are they at an increased risk of any serious mental illness. Because these boys are at a higher risk for having learning disabilities, they may benefit from speech therapy, tutoring, and general awareness of the specific issues they struggle with. Although the first years of school may be more challenging for boys with XYY syndrome, they generally go on to lead full, healthy, and normal lives. Characteristics of XYY syndrome are often subtle and do not necessarily suggest a serious chromosomal disorder.

Thus, males with this condition are often undiagnosed or misdiagnosed. The most common physical difference is increased height, which usually becomes apparent after the age of five or six, and results in an average height of about 6 feet, 3 inches by adulthood. Some individuals with XYY also develop severe cystic acne during adolescence.

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Fertility and sexual development are normal. Besides the potential for increased height, most affected individuals typically have a normal physical appearance phenotype. Boys with XYY syndrome typically have normal intelligence, although, on average, IQ is 10 to 15 points lower than siblings. Affected boys may exhibit mild delays in reaching developmental milestones. Learning disabilities have been reported in up to 50 percent of cases, most commonly speech delays and language problems. Reading difficulties are common due to an increased incidence of dyslexia. In some cases, affected individuals develop behavioral problems such as an explosive temper, hyperactivity, impulsivity, defiant actions, or, in some cases, antisocial behavior.

There is a higher rate of attention deficit and hyperactivity disorder and a smaller increased risk for having an autism spectrum disorder. XYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y chromosome. Normally, males have 46 chromosomes including one X and one Y chromosome. Males with XYY syndrome have 47 chromosomes, two of which are Y chromosomes.

Most cases of XYY syndrome are due to a cell division error in the sperm prior to conception. Rarely, the cell division error occurs after conception resulting in a mosiac of cells with 46 chromosomes and 47 chromosomes. The exact cause for why these errors in cell division occur is not understood. XYY syndrome is a rare chromosomal disorder present at birth that affects only males. It is estimated to occur in approximately one in 1, live births.

Symptoms of the following disorders can be similar to those of XYY syndrome.

Living with Klinefelter Syndrome (47, Xxy) Trisomy X (47, XXX) and 47, Xyy

Comparisons may be useful for a differential diagnosis:. Klinefelter syndrome is associated with a group of chromosomal disorders in males in which one or more extra X chromosomes are present. Males with the classic form of the disorder have one extra X chromosome. Common physical features may include tall stature, lack of secondary pubertal development, small testes hypogonadism , delayed pubertal development, and breast development gynecomastia in late puberty. These features may be associated with low testosterone level and elevated gonadotropin levels. Sotos syndrome is a variable genetic disorder characterized by excessive growth before and after birth.

One of the major features of Sotos syndrome is a particular facial appearance that includes facial flushing, an abnormally prominent forehead frontal bossing , down-slanting eyelid folds palpebral fissures , prominent, narrow jaw, a long narrow face and a head shape that is similar to an inverted pear. Height and head circumference are measured to be greater than average for most affected children. Developmental delays are present in most children with Sotos syndrome and can include motor and language delays as well as mental retardation ranging from mild to severe.

Other problems associated with Sotos syndrome include jaundice in newborns, curved spine scoliosis , seizures, crossed eyes strabismus , conductive hearing loss, congenital heart defects, kidney abnormalities and behavioral problems. Affected individuals also have a slightly increased risk to develop specific types of tumors.

Sotos syndrome is caused by an abnormality mutation in the NSD1 gene. Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength. Connective tissue is found all over the body and multiple organ systems may be affected in individuals with Marfan syndrome.

The heart and blood vessels cardiovascular , skeletal, and eye ocular systems are most often affected. Major symptoms include overgrowth of the long bones of the arms and legs, abnormal side-to-side curvature of the spine scoliosis , indentation or protrusion of the chest wall pectus , dislocation of the lenses of the eyes ectopia lentis , nearsightedness myopia , widening aneurysm and tear dissection of the main artery that carries blood away from the heart aorta , floppiness of the mitral valve mitral valve prolapse and backward flow of blood through the aortic and mitral valves aortic and mitral regurgitation.

The specific symptoms and the severity of Marfan syndrome vary greatly from case to case. Marfan syndrome is inherited as an autosomal dominant trait. In addition, in this review most studies enrolled pregnant women with increased chance of having babies with abnormal chromosome number, so our findings do not directly apply to general populations of pregnant women.

However, no study compared the two approaches head-to-head in the same cohort of patients. The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies T21, T18 and T13 , thus avoiding invasive procedures. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high- risk populations.

There is paucity of data on the accuracy of gNIPT as a first-tier aneuploidy screening test in a population of unselected pregnant women. With respect to the replacement of invasive tests, the performance of gNIPT observed in this review is not sufficient to replace current invasive diagnostic tests.

We conclude that given the current data on the performance of gNIPT, invasive fetal karyotyping is still the required diagnostic approach to confirm the presence of a chromosomal abnormality prior to making irreversible decisions relative to the pregnancy outcome. However, most of the gNIPT studies were prone to bias , especially in terms of the selection of participants. Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates.

The discovery of fetal circulating cell-free DNA ccfDNA in maternal blood offers the potential for genomics-based non-invasive prenatal testing gNIPT as a more accurate screening method. To evaluate and compare the diagnostic accuracy of MPSS and TMPS for gNIPT as a first-tier test in unselected populations of pregnant women undergoing aneuploidy screening or as a second-tier test in pregnant women considered to be high risk after first-tier screening for common fetal aneuploidies.

The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. We also screened reference lists of relevant full-text articles, websites of private prenatal diagnosis companies and conference abstracts.

Studies could include pregnant women of any age, ethnicity and gestational age with singleton or multifetal pregnancy. The women must have had a screening test for fetal aneuploidy by MPSS or TMPS and a reference standard such as fetal karyotype or medical records from birth. Two review authors independently carried out study selection, data extraction and quality assessment using the QUADAS-2 tool. Where possible, hierarchical models or simpler alternatives were used for meta-analysis.

Health issues in Klinefelter syndrome

Sixty-five studies of 86, pregnant women aneuploids and 82, euploids were included. No study was judged to be at low risk of bias across the four domains of the QUADAS-2 tool but applicability concerns were generally low. Of the 65 studies, 42 enrolled pregnant women at high risk , five recruited an unselected population and 18 recruited cohorts with a mix of prior risk of fetal aneuploidy.

TMPS was assessed for T21 in four studies involving unselected cohorts; three of the studies also assessed T18 and The corresponding clinical specificity was above Background There are 46 chromosomes 23 pairs in humans. So, this invasive test is only offered to women who are thought to have a higher chance of having an affected unborn baby What we did We looked for studies that included women of any age, ethnicity and gestational age who were carrying either a single baby or more than one.

What we found We found 65 studies with a total of 86, pregnant women, including affected pregnancies. Other important information to consider gNIPT method appears to perform well in identifying unborn babies with abnormal number of chromosomes. Authors' conclusions:.

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