Klinefelter Syndrome Advantages And Disadvantages

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

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

De novo mutations account for 80-90% of all cases of ACH (1, 4, 7, 8, 11). Recent research has determined that increased paternal age correlates to this specific mutation occuring (4, 7, 11, 19). The maternal age seems to have no effect, meaning that the de novo mutation occurs during spermatogenesis (20). This has also been studied and each affected individual was found to have received the mutated chromosome paternally (21). There has only been one documented case of an

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

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.

Imagine being a kid, going to school and struggling a little more than everyone else. You're the tallest in your class, and different than your friends. You can’t pronounce words as well as they can, and they can’t really understand you. You have to have special classes to help with your learning disabilities. These things describe XYY Syndrome, also known as 47, XYY Syndrome; Jacob’s Syndrome; XYY Karyotype; and YY Syndrome. (NORD). It is a genetic disease in which males have an extra Y chromosome due to an error in cell division.

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 testes are one of the physical differences that are seen within men that has this disorder with the assumption that theses phenotypic differences are contingent to the proximity of the SRY gene in addition to the absence of the rearrangement that directly modifies SRY gene expression. The rearrangement of the SRY gene can cause a cascade of effects especially with the expression of the SOX 9. The influence of SOX 9 aids in the function of testes development. PCR assay have been utilized in order to reveal the significance of SOX 9 and how it aids in the development. The PCR assay sequenced genes that were used in the coding section of SOX 9, but the specific strain that was used not clearly defined. It was shown through three assays that it confirmed the idea that if the SRY gene were not present it would aid in the mutation of testicular development. Although this experiment was proved to show definite results, it did not show what the three independent PCRs were specifically targeting in the assay. The author was trying to prove that without the SRY gene a male phenotype would still develop, but the physical appearances of these men would be slightly modified to be less normal with small testes that were deemed infertile. The results that were displayed has risen more questions then finding a closer clue as to how the SRY gene could make a man infertile with malformation of the testes. Instead it questioned whether or not the SRY gene could ultimately be the cause of infertility despite having the mutation

It is not a very common disorder, but one factor that can contribute to this condition is when a woman over the age of 35 gives birth. As a woman ages so do her eggs. The genetic information inside the egg has a greater chance of being altered. Mutations and nondisjunction are more likely to occur in older eggs. Doctors have found that this disorder is really caused by random chance of a problem that occurs during meiosis. Parents of a Klinefelter boy are not to blame for their son having this condition.

Many people affected by Klinefelter syndrome are at high risk of many different health issues, but if these risks can be reduced if signs are caught and treated early. High risk autoimmune disorders, which are disorders in which the immune cells attack the body, include rheumatoid arthritis, hypothyroidisms, lupus, and type 1 diabetes. High risk venous diseases include varicose veins, deep vein thrombosis, and pulmonary embolisms. Since affected males have such a high risk of these venous diseases, they should pay close attention to their weight, follow an adequate diet, avoid smoking, and exercise regularly. Tooth decay is a problem with Klinefelter-affected males since they usually have taurodontism, which is when teeth have shorter roots,

Martin McDonald is a 31 year old man who has been diagnosed as having a low sperm count, low sperm motility, and a high percentage of abnormal sperm cells. He has been married for six years and his wife has already undergone three unsuccessful attempts at artificial fertilisation and one unsuccessful attempt at in vitro

Men with this condition have longer legs, a higher voice, and a thinner beard than average men do. Their testicles are smaller than usual and do not produce functioning sperm cells, so the men are infertile. Compared with other men, they have lower levels of androgens (male hormones) and more estrogens (female hormones). For this reason, they often develop gynecomastia (benign male breast growth) and have an increased risk of male breast cancer.

The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.

scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of

In the United States, an estimated 2.3 million couples are considered infertile [Wekesser, 1996]. This creates a large need for infertility specialists and clinics specializing in fertility treatments. With the quickly advancing field of rep roductive services and the quest for creating better, healthier babies, a new service called Preimplantation Genetic Diagnosis (PGD) is being offered in conjunction with In vitro fertilization.