Klinefelter Syndrome Essay

I never heard of anyone having a sex chromosomal abnormality. Klinefelter syndrome is a rare condition in males that is caused by an extra X sex chromosome. Males with the XXY chromosome pattern do not develop secondary sex characteristics. Males with Klinefelter syndrome have weaker muscles and may develop breast tissue. They are also infertile because they do not produce sperm. Turner syndrome occurs in females and is caused by having only one X sex chromosome. Most females with Turner syndrome do not produce estrogen and progesterone. This causes poorly developed breasts, no onset of menstrual periods, and possible infertility. However, a woman with Turner syndrome can usually carry a baby to term if another woman donates an ovum and it is fertilized in a laboratory dish and implanted inside

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

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.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

The specific metabolic disorder that I picked for this discussion is Krabbe Disease or globoid cell leukodystrophy. The disease destroys the protective coating of nerve cells in the brain and throughout the body causing the nerve cells to stop responding or react unpredictably. The disease is caused by a person receiving two copies of a mutated gene that results in severely curtailed production of an enzyme called galactocerebrosidase (GALC) (Krabbe disease, n.d.). This enzyme is responsible for breaking down certain substances in a cell's recycling center. Unfortunately, in Krabbe disease, not enough GALC was produced so the cells begin accumulating fats called galactolipids which normally are responsible for maintaining the protective coating

This Noonan syndrome is not sex-linked. In other words, K.J. Jr. would have still had this disease even if he was a daughter. It associates to his autosomal chromosomes, or any chromosomes that aren’t sex linked. Therefore, the gene is not

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

The most challenging medical diagnosis I have been introduced to is isodicentric chromosome 15 syndrome. This syndrome occurs in about 1 in 30,000 newborns and is a result from having an abnormal extra chromosome in each cell. The chromosome has mirror-image segments instead of a different segment at each

Severe Combine Immunodeficiency(SCID) is a disease that infects infants within the first few months of life. Some of these infections can be life threatening. The cause of SCID is usually a defect in the T- & B-lymphocyte systems. SCID is known as the “Bubble Boy Disease”. According to the article The SCID Homepage, “SCID became widely known during the 1970’s and 80’s, when the world learned of David Vetter, a boy with X-linked SCID, who lived for 12 years in a plastic, germ-free bubble.” There are multiple versions of SCID, but the most common form is caused by the X-chromosome. Because this disease only affects the X-chromosome, it can affect male infants.

“The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential” (Wang, 2011). Since these individuals are unable to go through puberty since they lack the sex hormones estrogen and progesterone, they can be placed on hormone replacement therapy during adolescence to induce menstruation. These hormones will also aid in the development of female secondary sex characteristics such as breast enlargement and uterine growth. Woman with this disorder cannot produce ova but can still become pregnant. They can do so by a donated egg or embryo. Hormone replacement therapy also helps these people by reducing the chance of them developing reduced bone density like osteopenia and osteoporosis

Image your son is six foot eight inches, and he has a lower IQ score than his younger sister. You think nothing of it because all the men in the family are over six foot and that seems normal to you but it could be possible your son might have xyy syndrome which is just a extra y chromosome in the DNA. Discovered by Sanders and his coworkers in 1961. There are a lot of things associated with xyy syndrome learning disabilities increased height in males and severe acne during adolescence. Only boys are affected (girls go ahead laugh at us we be taller than you)but xyy syndrome is not a disorder that is in our DNA more of a sperm split mistake. He might need therapy to help with speech and motor skills outside of that he should

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

XYY Syndrome is a condition where a male has an extra Y chromosome in his genes. This can be known as “Jacob’s Syndrome, XYY Karyotype or YY Syndrome”. Having this condition does not mean that an individual life would have a massive impact although there are some factors that may cause issue such as being taller than an average height person of the specific age, learning difficulties, speech problems, minor physical differences such as weaker muscles and bones. The condition can cause delayed puberty, which is why when a male is older he could fact fertility issues, and complications related to low testosterone levels. Saying this, XYY Syndrome does generally distinctive physical features or complications and have a normal sexual