Cornelia De Lange Syndrome Essay

Because there are different types of Waardenburg Syndrome, there are different types of inheritance patterns. Types I and III have an autosomal dominant inheritance pattern while types II and IV have an autosomal recessive inheritance pattern (Calendar 2013). The most common type of inheritance is the autosomal dominant inheritance (Type two 2013). An autosomal dominant inheritance pattern means that the mutated gene (EDNRB, EDN3, MITF, SNAI2, PAX3 and SOX10) is in each cell to cause Waardenburg Syndrome (Genetics 2013). In other words, only one parent has to have the copy of the altered gene in order for someone to have the syndrome. An autosomal recessive inheritance pattern means that the mutated gene has to come from both parents in order for a person to have Waardenburg Syndrome (Calendar 2013). Even though both parents carry the mutated genes, they don’t usually show any signs or symptoms of Waardenburg Syndrome.

Edward’s Syndrome is the second most common of the trisomy disorders, following Trisomy 21 (Down syndrome), but does not happen very often in developing fetuses. It occurs once in every 5,000 live-born infants, and most of these infants are female. Many times, the fetus that is affected with this disorder will not make it the full nine months. Other times, if the infant is born with the disorder they will only live for about a month or less. This disorder is seen more often when older women are pregnant, rather than young mothers. 10 percent of individuals with trisomy 18 will live past the first month, and some can even live into their twenties with severe developmental conditions and disabilities. The actual

Turner Syndrome during pregnancy can be confirmed by prenatal testing by sampling, or getting cells from the baby for a chromosome analysis. If the diagnosis is confirmed prenatally, also the baby may be under the care of a specialist pediatrician, also the baby may be under the care of a specialist immediately after birth.

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,

During the process of amniocentesis, usually done between 15 and 20 weeks of pregnancy, a needle is inserted through the abdomen and into the uterus in order to retrieve a sample of amniotic fluid for testing. As for CVS, throughout the cervix a thin tube is inserted in order to extract a small sample of the placenta for testing. This is usually done between 10 and 12 weeks of pregnancy. If pregnant or considering it is recommended you and your partner be tested to see if you are carriers for the gene. When one or both partners are carriers of the disease genetic testing is typically done. If both partners carry the gene for the disease their child has a 25% chance of developing the disease (Elsevier, 2007). In order to inherit the disease the child must receive 2 copies of the defective gene, one from each parent. A blood test can be performed after birth in order to see if your child has the disease. The most common form of the disease is classic infantile. Between 3 and 6 months of age signs will begin to show in this case. Progression is fairly quick and children with the disease usually will not live past the age of 4. The disease also causes severe mental and physical side effects. Initial symptoms can include seizures, listlessness, decreased eye contact, delayed mental and social skills, slow body growth, increasing irritability, increased startle reaction, and the infant may stop smiling, crawling or rolling over, and lose the ability to grasp and reach out (Weiss, 2010). Symptoms that occur later on may include deafness, blindness, a loss of intellectual skills, difficulties eating, a loss of motor skills, and abnormal body tone (Weiss, 2010). In juvenile Tay-Sachs symptoms typically appear between the ages of 2 and 5. The disease progresses more slowly, but death usually occurs by the time the child

Dorothea Lange was an important figure in American history during the Great Depression. Dorothea Lange is famous for her photographs that captured all the pain and suffering people were going through. These feelings and conflict were hidden or not known but with her photographs it soon came to the public's attention. She had said, “We unearthed and discovered what had been neglected… or not known.” This quotes explains what her intentions were for these pictures.

In some cases, an ultrasound can identify bone abnormalities at 14-18 weeks. Cells obtained through chorionic villus sampling or amniocentesis can also be analysed for a genetic mutation. Amount of collagen can be tested through a skin sample and genes can be tested through a blood sample and X-rays to check for bone abnormalities such as the symptoms explained earlier can be used to diagnose.

If the parents know they are carriers of Tay-Sachs, blood tests and prenatal tests can be done to check for the gene mutation right away. The blood tests will check for the levels of hexosaminidase, cases with Tay-Sachs will have suppressed or have no hexosaminidase (Mayo Clinic Foundation). Between the 10th and 12th weeks of pregnancy, an expectant mother can get a chorionic villus sampling (CVS), in which a small sample of the placenta is drawn into a needle or a small tube for analysis. Between the 15th and 18th weeks of pregnancy, a woman can have an amniocentesis to test for the Tay-Sachs gene. In this test, a needle is inserted into the mother's belly to draw a sample of the amniotic fluid that surrounds the fetus (Nemours Kids Health). Symptoms start to show in early childhood, typically in the first 6-12 months of life, however, in some cases it could be 2-3 years before symptoms appear. There is a mutated version of Tay-Sachs that can affect adults later in life. “People in their 20’s and 30’s can actually develop a variant of this disease that causes them to have difficulty balancing and results in a progressive deterioration that is similar to what is seen in children with the classic form of the disease. Kids and adults both have one thing in common: there are some red spots that can be seen in their eyes, often described as looking like

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

For my second extra credit, I watched a documentary on the life and work on Dorothea Lange, someone who, opposite Ansel Adams, intended her work to be documentary and send a message.

Clinically, the oral findings were “high arched palate in all cases, malocclusion in 6 cases and macrostomia in 4 cases while multiple impactions of the teeth were detected in four patients” (Gataa, 2015, p. 7713). Additionally, only one patient had a cleft palate. From a radiographic perspective, all patients had zygomatic hypoplasia and seven patients had maxillary sinus hypoplasia. Many patients also had micrognathia and short ramus of the mandible. As only two patients had family history of TCS, six patients had TCS due to a new mutation. These results exemplify the notion that TCS patients are all affected differently, and with varying types and degrees of deformities, due to the fact that most cases arise from a new mutation.

This report will give historical information about Dorothea Lange, who photographed the “face” of the Great Depression. The project will audit her early life and photographs. It will also examine her role during the Great Depression. Dorothea Lange took pictures of anything that caught her eye, which is why her photographs do not have a particular classification. If her technique did have a vague analysis, it would be social realism, which is a style of painting, used in the 1930s, in which the scenes showed political protest.

And this disorder affects the skin, hair and nails. This happened because the layer that is in charge of these things when the fetus was being created failed to develop. Malanie Gaydos, who is a model, has this genetic information she lacks hair, teeth, nails and her skin is very sensitive. She has learned to embrace this disorder and is now living her

A contemporary artist, Cornelia Parker who was born in Cheshire in 1956, educated at Gloucestershire College of Art and Design produces some compelling art works while exposing her thoughts or beliefs towards ‘art’ and applied on each of her works. She is one of the creative and fundamental artists who is currently working in London. Most of her ongoing practices or completed art works are mainly in installations and sculpture, dealing with the fragility of human experiences. There a lot of her works that show how an object can be broken, smashes, bent or exploded but also she encourages to show how that process then releases something else smoking, flying or decaying. This essay will be explaining briefly, how Parker approaches her art works while applying her thoughts, knowledge, beliefs or her identified characteristics. And it will also introduce her two most relative works rather than her developments overtime.

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