Chromosomal Disorders: Di George Syndrome

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder where symptoms resembling aspects of aging are displayed at a very early age (Progeria 101). A genetic disease is an illness caused by one or more abnormalities in the genome, especially a condition that is congenital (present from birth). Genetic diseases are rare and may or may not be heritable. There are thousands of extremely rare genetic diseases, one being Progeria. Progeria affects its victims and their families more than physically; it takes a toll on the mental and emotional state of mind.

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

DiGeorge syndrome is a genetic problem due to a defect in the chromosome 22 causing the body systems to be developed poorly. It can result

In contemporary America, the media is known for routinely showing images of the ‘normal’ body of the so-called ‘regular’ people, and those interpretations are disseminated all over society. Not only does the popular media impose those idea repeatedly, they consistently display women and men as products to be sold. There are some who shamed those for even displaying such bodies to begin with like the disabled woman, Jes Sachse, a twenty-five year old Canadian who garnered attention by mirroring American Apparel ads of beautiful, but racy images of other women. The difference between her and those women is her genetic disorder called Freeman-Sheldon syndrome, which is a condition that deforms areas such as the face, hands, and feet. She ultimately gained popularity,

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Progeria is the World’s leading cause of children death because, Progeria is a fast-paced disease the disease has many symptoms and signs, and the treatments are very minimal. This disease is the saddest disease i have seen or heard of in years.

Birt-Hogg-Dube syndrome is a rare disorder where you have certain tumors. Most tumors appear on the face, forehead, and neck. BHD is caused by mutations in the FLCN gene. (Genetics Home Reference) BHD is also inherited from parents or the grandparents. The symptoms are, tumors on face, neck, and the forehead. (Genetics Home Reference) BHD increases the risk of getting cancer.

The most common cause of MT-DNA Associated Leigh Syndrome is a mutation of the MT-DNA in the patient’s genetics and is most directly related to a maternal genetic mutation, as MT-DNA is passed through egg cells.The mother of a patient diagnosed with this disease most often develop very little to no symptoms. ("Leigh Syndrome", 2016;Thorburn,2014). The likelihood of children having a MT-DNA mutation is 100%, if the mother's MT-DNA has the mutation. This is due to the fact that the genetic code of the mitochondria, as previously stated, is passed through DNA in the egg cell ("About Mitochondrial Disease", n.d.). This form of leigh’s syndrome is most commonly diagnosed within 3 - 12 months into life, and rarely presents in the teenage years into adulthood. According to Mito Action, 1 in 4000 Americans are born with a mitochondrial disease and of this approximately 25% are diagnosed with Mt-DNA Associated Leigh Syndrome ("About Mitochondrial Disease", n.d.).

The signs and symptoms of DiGeorge syndrome vary from mild to severe. Symptoms can differ depending on how highly the affected areas are and the severity of those defects. Some signs of symptoms can be noticed at birth, while others are not noticeable until late childhood. Some symptoms caused by DiGeorge syndrome affect facial appearance, such as low set ears, underdeveloped chin, small

A syndrome is a group of symptoms that consistently occur together, or a condition characterized by a set of associated symptoms that is the result of a single etiology. The majority of anomalies have a genetic cause, the others are due to environmental causes. The process of identification of such a syndrome has shifted from making a diagnosis of a syndrome based upon clinical suspicion (stigmata) to genetic diagnosis at first.

Chromosomal abnormalities and single-gene disorders are major causes of different complicated human diseases including cancer (Grade, Difilippantonie, and Camps, 2015). Identification of chromosomal abnormalities and single-gene defects is crucial step in diagnosis and treatment of various diseases. Currently, clinical laboratories are applying different types of molecular diagnostics methods to detect chromosomal abnormalities and single-gene disorders (Mahdieh and Rabbani, 2013).

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.