Turner syndrome Essay

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.

Esther Y. Turner has been a member of Christian Faith Assembly, Hainesport NJ for over 23 years where she currently serves as a Minister on the Ministerial Staff. She formally served as Director of Administration for Christian Faith Assembly, Director of Church Growth Ministries, President of Total Women Ministry and a Job Placement Coordinator/Facilitator, an appointed position by the Pastor, to help those who in the church and in the community with gainful employment. She has organized, coordinated and headed numerous Women’s Retreats and Seminars, both nationally and internationally.

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.

Autism is a form of neurodevelopment disorder in the autism spectrum disorders. It is characterized by impaired development in social interactions and communication, both verbal and non-verbal. There is an observed lack of spontaneous acts of communication; both receptive and expressed, as well as speech impairments. A person diagnosed with Autism will also show a limited range of activities and interests, as well as forming and maintain peer relationships. The individuals will display limited interests, which are often very focused and repetitive. He or she is likely to be very routine oriented and may show behavioral symptoms such as hyperactivity, impulsivity, aggressiveness, and self-injurious behaviors.

Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects their sexual development and the ability to have children. Other features of this condition that can vary among women who have turner syndrome include: extra skin on the neck, heart defects, puffiness or swelling on the hands and feet, and/or kidney failure.

What if you were the one who always got mad because you blood pressure was so high that is reached the sky. What if you were so short you couldn’t reach the counter, or what if you always had to be afraid of needles going into your arm every 2 hours? There are over 3,000 girls per day that get diagnosed with the turner syndrome, The turner syndrome can really affect how girls live in there normally daily lives.

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

This research was conducted to demonstrate the usage of allopurinol can result in Cutaneous Hypersensitivity reaction. Stevens Johnson’s syndrome (SJS) is a cutaneous hypersensitivity reaction which occurs in 3-5% of hospitalized patients.1 These severe cutaneous adverse reactions are characterized by epidermal necrosis, extensive detachment of the epidermis, erosions of mucous membranes and severe constitutional symptoms.4 Despite the Low incidence, SJS has a high mortality rate as stated by BMC Medical Genetics. According to Pharmacogenetics Genomics, Medications are considered to be the major cause of Stevens Johnson’s syndrome (80%). The most common medication is Allopurinol. Allopurinol, an inhibitor of xanthine

Williams Syndrome is a genetic disorder that happens in the fetus stage and after birth. This syndrome is caused by the deletion of 26-28 genes in chromosome 7. Symptoms include facial deformities, trouble speaking, and the narrowing of the Aorta with many more symptoms.

Turner Syndrome is a genetic disorder that effects a girl’s development. Girls who have it are short, and most are infertile. Girls and women that have turner syndrome are at a risk for many health problems, including high blood pressure, kidney problems and diabetes. There is no cure. But treatment can help reduce symptoms as you read in the text below. This information stated below will explain health issues of turner syndrome. It will also cover symptoms and causes of this disease as well as diagnosis and treatment options.

Sotos syndrome (OMIM 117550), was first described by Juan Sotos (Sotos et al., 1964) in five patients with prenatal and postnatal overgrowth, characteristic facial appearance, advanced bone age and developmental delay. The majority of cases are sporadic, but autosomal dominant pedigrees have been published (Kurotaki et al., 2003).

While there is no actual cure for ASD, doctors can prescribe medicine and recommend a number of classes to take to help cope. One of those classes being, Behavioral Training & Management. Behavioral training and management uses positive reinforcement, self-help, and social skills training to improve behavior

Autism Spectrum Disorder (ASD) is not one specific disorder, but a group of disorders that have similar behavioral characteristic, such as difficulty with communication and socialization. The cause of ASD is still unknown but there are studies that indicate there may a genetic or environmental component. More specifically, ASD can cause limitations in intellectual abilities as well as difficulties with attention and motor coordination. ASD is usually identified during the first three years of life and affects boys at a higher rate than girls (Autism Society). ASD actually occurs at five times a higher rate in boys than in girls, affecting as many as 1 in 54 boys as compared to 1 in 252 girls (Center for Disease Control and Prevention).

Living with disabilities on a daily basis can be more difficult then some realize. Many people who are born with developmental disabilities start their education and therapy at a very young age and there are also those people who have been diagnosed with a disability sometime during their lifetime. But what is there for them to do once they have graduated from high school or are told they are too old to continue in a regular school or they are simply told they aren’t accepted in the “normal” community? In all reality there really

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.