Klinefelter Syndrome Research Paper

     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).

Meiotic errors are alterations of a cell's chromosome number or structure. Chromosomal alterations happen in both mitosis and meiosis. But in other ways meiosis provides more opportunities for errors. Do to the three sources of genetic variation in meiosis that can also be opportunities for errors. Crossing over in prophase I independent assortment and in anaphase I and anaphase II are major sources of genetic variation in the sexually

Turner Syndrome is a disorder that affects one in every two thousand girls. Usually girls are born with only one X chromosomes. Some are born with an extra chromosome, or sometimes even half of one is missing which causes Turner Syndrome.

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

Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.

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

Purpose – The purpose of this paper is to discuss Ekbom Syndrome, also known as primary delusional parasitosis.

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

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,

Klinefelter's Syndrome is a genetic disorder that only affects men. Those affected are born with an extra X chromosome (Belts & Frey, 2006). In 1942, Dr. Harry Klinefelter released a study concerning nine men who had little to no facial hair, enlarged breasts, small testicles, and were unable to produce sperm. The name of this syndrome originated from Dr. Klinefelter's name (Kenny & Henderson, 2015). This disease is often abbreviated as KS or referred to as 47 XXY. It is referred to as 47 XXY because of the extra chromosome in patients (Schoenstadt, 2016).

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.