Lejeune's Syndrome Research Paper

This is saying they are going to have some type of complications with missing chromosomes. “Most cases of Cri-Du-Chat is not inherited.” (Cri-Du-Chat syndrome clinical presentation,1) . Most don’t inherit this syndrome. It also affects infants because it 's really an intellectual disability.

| * Will move their arms and clench their fists if a sudden noise or bright light * Will cry when hungry or distressed * Will stop crying when they hear a familiar voice * Will develop different types of cry

Cri-du-chat Syndrome is caused by a specific deletion in chromosome 5. It will result in severe mental retardation, abnormal facial features, a small head and an abnormally developed larynx which can causes the child's cry to sound like a cat. Some affected individuals rarely survive past early childhood.

Imagine yourself walking into a grocery store, and having all eyes stare at you in shock. As you continue to walk, they can’t help themselves but stare even more. Most people won’t even get near you; they are scared as if you could hurt them in any way. Believe it or not there are people who have no choice but to deal with situation everyday. What they have is a genetic disorder called Noonan Syndrome, and they do not choose to have this.

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion occurs randomly during meiosis (the formation of the gametes). In about 90% of people who have this condition, the deletion is completely random and is not inherited. The remaining 10% of affected people inherit a chromosome with a deleted section from an unaffected parent. This is because the parents’ balanced

In most cases of Cri du chat the syndrome isn’t inherited. The chromosomal disorder usually occurs because of a random event during the formation of reproductive cells (eggs or sperm) or during early development. People with cri du chat typically don’t

Nhyan syndrome also known as Lesch-Nyhan syndrome (LNS) and juvenile gout is an inherited rare disorder. Lesch-Nyhan syndrome is caused by an inefficient amount of enzyme hypoaxantine-guanine phosphoribosyltransferase (HGPRT) caused by mutations in the HPRT gene which is located on the X chromosome. LNS was clinically characterized and first recognized by pediatrician William Nyhan and medical student Michael Lesch, their findings were published in 1964.

Jeune syndrome is a rare inherited disease that has a significant impact on infants and small children. As a result of this disease infants with this condition usually experiences difficulty breathing, kidney abnormalities, and other life threatening issues. Antenatal examination is possible by ultrasound but specific diagnosis is difficult and seemingly impossible. Individuals are diagnosed at birth after careful observation of the limbs and chest area. Patients usually die from respiratory failure because of a very small chest and repeated respiratory infections (Phillips and Van Aalst 2008). There is not a lot that can be done for patients with Jeune syndrome because scientists are still in the process of obtaining knowledge about the initial cause and ways to prevent the mutation (Phillips and Van Aalst 2008). It is understood that because this is autosomal recessive disease, meaning both parents must be carriers.

Cri du chat syndrome is a rare genetic condition that is caused by the deletion (missing piece) of a genetic material on the small arm of chromosome 5. The cause of this disease is unknown. Some of the symptoms of this disease usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size, widely-spaced eyes, low birth weight, weak muscle tone, and webbing.

The world of psychology remains an ever-growing force, affecting humankind constantly with the capability to shape or change a person's overall cognition and behavior.  Frequently, psychological disorders or conditions arise due to the normal anatomy or physiology of the brain being altered, manipulating or even magnifying the average person's state of mind.  Upon delving into the expansive realm of psychological conditions, I had discovered a rather unique condition that evidently leads its victims to believe they are no longer among the living: Cotard's Syndrome (AKA Walking Corpse Syndrome).  In short, it goes without saying that the grotesque delusions of this syndrome are undeniably captivating, which drew me in with

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. (n.d.). Retrieved April 18, 2016, from http://www.nature.com/eye/journal/v25/n11/full/eye2011201a.html

Loeys-Dietz Syndrome (LDS) is a genetic disorder that affects connective tissue in the body. To tell if someone has Loeys-Dietz syndrome, you can most likely see; widening or dilation of arteries, twisting or spiraled arties, widely spaced eyes, and spilt or broad uvula. Although, these are the main characteristics of Loeys-Dietz, not all patients suffer from all of these syndromes. LSD can also affect the bones, blood vessels, skin, and/ or organs. Other characteristics include: aortic aneurysm which is when the main blood vein has abnormal swelling, joints are flexible, possible scoliosis, etc. LSD affects each person differently and can only be passed down from a family member. Sadly, people who suffer from

Leslie is a 59-year-old female diagnosed with grade 2 invasive lobular carcinoma stage IV malignant neoplasm of the left breast (Pt3, Pn2A, M1) ER/PR positive and HER-2/neu negative(C50.412), along with malignant neoplasm of overlapping sites of right female breast and secondary malignant neoplasm of bone. On 2/14/2017, she underwent a left total mastectomy with axillary sentinel lymph node biopsy/axillary lymph node sampling and right total mastectomy with axillary sentinel lymph node biopsy. She had a further evaluation with staging PET/CT on 3/13/2017. That study showed multiple foci of intense abnormal activity correlating to lytic lesions in the skeleton, consistent with widespread skeletal metastasis. Leslie’s disease if obviously

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.

Marshall’s Syndrome is a rare autosomal dominant genetic disorder. It causes distinctive facial features and limits hearing, smell, and sight based senses. It is caused by irregularities in the COL11A1 gene. Research on the disease is limited. The number of people affected by it is unknown due to little research on the subject. Though the disease causes many problems for the people affected by it, it’s not impossible to live a normal life while suffering from its effects.