Klinefelter syndrome (also called XXY syndrome), was found in 1942 by Dr. Harry Klinefelter and is one of the most common chromosomal disorders affecting males. An extra X chromosome is found in the cells of these affected males, meaning they have two X chromosomes instead of just one, the genotype for this disorder is XXY, a normal genotype for a male is just XY. Some affected boys will have more features of the disorder than others, some who have the syndrome could have more symptoms than others who have it. In some cases, Klinefelter syndrome is not found until a boy gets to puberty, and sometimes, men may never be diagnosed with the condition. The most common symptom of this genetic disorder is infertility. Infertility means that you are …show more content…
They also do not handle stressful situations as good as other people. As a result, they often do not feel comfortable in social situations. Some people with Klinefelter syndrome can also have anxiety, nervousness, but also depression and low self esteem.
Only a little bit of males with klinefelter syndrome have been diagnosed before birth. This might be shown after a pregnant woman has a procedure to examine cells from the fetus taken from the placenta for any other reason, maybe if they are older than age 35 or if they have a family history of genetic conditions. If Klinefelter syndrome is not diagnosed early on, a patient with this syndrome may have some of the effects and would want to go to the doctor to see what is wrong. The doctor then may perform a karyotype analysis, the XCAT-KS buccal swab test, and microarrays on the patient, these are all are options for postnatal testing for a diagnosis. Physical therapy is usually recommended for boys with klinefelter syndrome or delayed motor skills that could possibly affect muscle tone, muscle balance, and all types of coordination. Therapy for this is advised in boys with these problems. But some people that have this disorder are good with visual memory and computers, sometimes creative or artistic, excel at hands on tasks, and are better with one to one friendships and one to one
Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.
Originally, researchers and scientists thought a duplication in the Y chromosome was the connection between how genetics influence crime. The male karyotype would be XYY instead of XY. They have a tendency for hyper-aggressiveness and violence (Wachbroit). This unique karyotype also leads to a significant number of abortions if the fetus carries the karyotype. The other effects of this mutation are men that are taller, less intelligent, hyperactive, and are more impulsive (Wachbroit). After much research no one could relate this to how it
Females are carriers in their X-Chromosome and they have the chance of passing the disease on to their children, 50-50 to a girl and 50-50 to a boy. If the girl does receive the gene she becomes a carrier. If the boy gets the gene then he has the disease. Males do not pass on the gene to their children because they pass on the Y-chromosome and the disease is X specific. Some female carriers have indicators of being a carrier by having symptoms of cardiomyopathy, shortness of breath during exercise, and muscle weakness in the back, arms, and legs. There have been very rare instances where a girl has not received a
The patient whose chromosomes are organized on the Karyotype Worksheet #1, is a normal female as indicated by her XX sex chromosomes, with a total number of 46 chromosomes and her karyotype doesn’t exhibit any aneuploidy or structural errors.
XYY Syndrome is a genetic disease where a male has an extra Y chromosome. This could then lead to an increased risk of learning disabilities.(Genetics Home Reference). XYY Syndrome
Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)
Krabbe disease is a disorder in the nervous system in which the patient becomes unable to function correctly. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. A large cell of a primary germ is found clustered together in the space between the skull and the brain causing it to destroy the cells. Although, this disease generally directed at infants it may also develop in an older child or adult.
The chromosomal abnormality that appears in the karyotype in Figure four is an extra chromosome 23, which happens to be an X chromosome. This abnormality originated from the mother because nondisjunction
Kinefelter syndrome is a genetic condition that occurs in men as a result of an extra chromosome. The most common symptom is infertility. Humans have 46 chromosomes, which contains all of a person's DNA and genes. Two of which that determines a persons gender. Kinefelter syndrome is the result of one extra X written as XXY. Some of the cells in a male's body have an additional x chromosome. It is found in about 1 out of every 500-1,000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. Women who have pregnancies after the age of 35 have a slightly increased chance of having a boy with this syndrome. Males who have Kinefelter syndrome may have the following symptoms: small firm
Adrenoleukodystrophy is a genetic disease that is passed on from mother to son. ALD is an X-linked disorder. That means it affects only males and is transmitted by a female carrier. This disorder is called X-linked since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes while men only have one. In women, the affected X-chromosome, the one with the gene for ALD does not become active because of the presence of a normal copy of the gene on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection.
My brother Jett Balanay was diagnosed with Klinefelter Syndrome. Klinefelter Syndrome is a genetic condition in which a male is born with an extra X chromosome. Instead of the normal forty-six X,Y chromosome of a male, Jett has forty-seven chromosomes which are X,X and Y. In my previous research I provided information about Klinefelter Syndrome, the signs and symptoms, the history of Klinefelter Syndrome, and a list of health care providers that are available to help treat males with Klinefelter Syndrome. This paper will provide detailed information about the three major facets when addressing treatment for males with Klinefelter Syndrome. The three major facets are hypogonadism “diminished hormonal or reproductive functioning in the testes or the ovaries,” gynecomastia “abnormal enlargement of the breast in a male,” and psychosocial problems “of or relating to the interaction between social and psychological factors” (Dictionary, 2015)
These treatments are more effective if the symptoms of Klinefelter syndrome are diagnosed early. Testosterone therapy is available in patches, gels, and injections to deepen the voice, improve muscle mass, and improve the growth of facial and pubic hair of individuals with Klinefelter syndrome. To counter infertility in individuals with the condition, in vitro fertilization methods such as testicular sperm extraction with intracytoplasmic sperm injection is available. During this procedure, a surgeon would take sperm from the individual’s testes and places a sperm in an egg on a laboratory dish. Depending on the individual, a doctor may recommend mastectomy, a procedure to reduce or remove enlarged breasts of Klinefelter syndrome patients. In addition, physiotherapists can help patients with Klinefelter syndrome improve muscle tone, strengthen bones, and improve their motor and coordination skills. An individualized education plan (IEP) can also be created in elementary and secondary schools to define and help students with Klinefelter syndrome reach academic and social goals at
known risk factor is advanced maternal age-at age 35, a woman has 1 chance in
Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.
Due to the wide variability of the many symptoms and effects, affected males with KS may have all of the symptoms and some may only have a few of the effects. Common symptoms are sparse body hair, tallness, infertility, small testes, and gynecomastia. As said before, many males with Klinefelter syndrome do not show many of these effects on the body but that does not mean that