Klinefelter Syndrome Analysis

For this assignment, I will use the websites, lab and materials from this week and complete an internet search of my own on chromosomes. I will write a two- page essay that explains how conditions caused by extra or missing chromosomes reflect a meiotic error. I will also choose two conditions or diseases to review. Also, distinguish among the modes of inheritance.

a doctor around the hospital will order a special blood test called a karyotype. This test counts the number of chromosomes, this test can also identify any that are abnormally shaped or have some missing pieces.

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.

Procedures such as amniocentesis and chorionic villus sampling (CVS) represent the standard diagnostic methods used by clinicians to screen fetuses for abnormalities or genetic disease such as Down syndrome. In amniocentesis, a needle is inserted into the amniotic sac of the mother and a small sample of amniotic fluid is obtained. Fetal tissue is contained within the amniotic fluid and is subsequently analyzed genetically and cytogenetically for abnormalities. In the case of CVS, a sample of placental tissue is obtained through the mother’s cervix for downstream genetic analysis as in the case of amniocentesis (CDC,

Partial Androgen Insensitivity Syndrome--that was the condition spat in my face as the doctor came in to tell me what was wrong with my child. But don’t worry! Corrective surgery can come to the rescue and “fix” my child. Basically, my child doesn’t have a place in the world unless they fit the norms, and surgery is the only way to do so. Honestly? Fuck that. The surgery is completely unnecessary because there aren’t any serious medical implications, and would only cause further harm; raising my child without a forced gender will allow for both freedom in gender development as well as avoiding the trauma of incorrect gender assignment.

The event in which a tetrad doesn’t split into homologous chromosomes or a homologous chromosome doesn’t split into sister chromatids, which causes an imbalance in the chromosome count of the produced gametes.

What is Krabbe disease? Krabbe disease, also known as globoid cell leukodystrophy, is a rare but deadly disease. It is caused by the inability to create enough of a substance called galactosylceramidase, which is needed to make myelin. This leads to a buildup of toxic substances in cells that produce the myelin sheath and to a progressive loss of myelin that covers many nerves. Myelin acts as a protective covering for cells and nerves and without it, cells and nerves in the brain can’t function properly.

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

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

Amniocentesis is a procedure where a sample of amniotic fluid (liquid that surrounds the fetus) is taken to see if the unborn child is suffering from chromosomal or metabolic disorders. This can be performed between the 12 and 16 weeks of pregnancy.

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.

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

The next technique routinely performed for prenatal diagnosis is amniocentesis. A long needle is inserted into the mother’s uterus to withdraw a sample of amniotic fluid containing cells shed by the fetus. The cells are cultured and analyzed for chromosome abnormalities. Despite the lengthy time in obtaining results because the cells need to be cultured, this method has become widely accepted as a safe and accurate way to determine genetic disorders.

Typically, the nucleus of each cell stores forty-six chromosomes. Half of these chromosomes derive from each parent cell. However, in those with Down syndrome, the cells contain forty-seven chromosomes. Researchers’ knowledge of the etiology of Down syndrome has grown since it was first described in 1866 by John Langon Down (National Down Syndrome Society, 2012). According to the National Down Syndrome Association (2012), 95% of the Down syndrome cases are caused by a fault in cell division. Although it is clear that this disorder occurs because of an alteration during cell division, the cause as to why this occurs is unknown. However, the pathogenesis of this disorder is clear. The pathogenesis of this disorder begins with nondisjunction during meiosis, which is failure of the chromosomes to separate. Today, it is known that there