There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females. He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due …show more content…
If not present at birth, it does not develop later in life. The lack of sexual development at puberty is the second most common characteristic. Having abnormal chromosomes does not mean that girls with Turner syndrome are not really female; they are women with a condition that causes short stature and poorly developed ovaries.
Affected females may also exhibit the following symptoms: infertility, kidney abnormalities, thyroid disease, heart disease, abnormalities of the eyes and bones, webbed neck, low hairline, drooping of eyelids, abnormal bone development, absent or retarded development of physical features that normally appear at puberty, decrease of tears when crying, simian crease (a single crease in the palm), a "caved-in" appearance to the chest, puffy hands and feet, unusual shape and rotation of ears, soft upturned nails, small lower jaw, arms turned out slightly at elbows, shortened 4th fingers, small brown moles, hearing loss, scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of which the two sex chromosomes are X-chromosomes. This is expressed as 46,XX (men: 46,XY). In many women with Turner syndrome, one of the X-chromosomes lacks completely, and the chromosome pattern then becomes 45,X. The X-chromosome in women is the carrier of genes related to production of ovaries and female sex hormones, and to growth in height. Girls with
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.
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.
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
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.
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).
Ever since I was a little girl, I have always wondered why God chose to give me the diseases I have. Did I do something wrong? Did my parents do something wrong? I felt as though God had turned on me and deserted me, and no matter how many times my mom told me that God has a plan for everyone, it never really made sense. I still constantly wondered if maybe God was mad at me or was maybe punishing me for something out of my control. It was not until I met Anyaa that I realized that God did not give me a challenge by giving me these permanent diseases, but he really granted me a gift.
Before discovering HeLa cells, many scientists believed that humans had 48 chromosomes. While doing an experiment, a geneticist accidentally used a solution to magnify the chromosomes located inside the HeLa cells, therefore bringing up the possibility that humans actually have 46 chromosomes. These results were later solidified by Joe Hin Tjio, a cytogeneticist who received his Ph.D. in biophysics and cytogenetics from the University of Colorado. This led to scientists discovering genetic disorders that are still prevalent today, such as Down syndrome and Turner syndrome. “Down syndrome occurs when an individual has a full or partial extra copy of chromosome” (ndss.org). There are about 6000 babies that are born yearly and about 400,000 people living with this syndrome. Without the magnification of chromosomes, the population affected by Down syndrome would have had a higher death rate. In fact, the life expectancy increased substantially from 25 years in 1983 to 60 by the year of 2012 thanks to HeLa cells. Turner syndrome is a chromosomal condition that affects development in females. Females with this syndrome have a great chance of reaching age fifty, but their life expectancy is still reduced by thirteen
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.
Williams syndrome is a rare, genetic disease affecting 1 out of 8,000 newborns (Williams syndrome, 2008). Caused by the deletion of several genes, there is no cure or treatment for it (Genetic Science Learning Center, 2014). While patients can live productive lives, they still face many difficulties in terms of their health and social skills.
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
Syndromes and deformations occur while the child is still in the womb of the mother. Syndromes such as, Edwards Syndrome, Klinefelter's Syndrome, Bloom Syndrome, and Turner Syndrome, research shows that a variety of these deformations occur with complications regarding the chromosomes( shown on karyotype chart). Most of these complications are not hereditary or genetically passed through the parents. All though these syndromes are not hereditary or genetically passed the life expectancy of these unfortunate beings goes no higher than twenty-seven years, some do not even survive childbirth.
total of 47 chromosomes. Those who suffer from Down Syndrome have intellectual disability and are usually marked by short stature, short, stocky arms and legs, flattened facial features, slanted eyes, and other symptoms that range in severity depending on the person. An example of a monosomy chromosomal abnormality would be Turner Syndrome. Turner Syndrome only occurs in women and is caused by monosomy X, which is an absence of that entire sex chromosome, leaving only 45 chromosomes. Women affected by Turner Syndrome usually have normal intelligence but are characterized by their short stature, loss of ovarian function, and sometimes a webbed neck or swelling of hands and feet. The second type of chromosomal abnormalities is structural abnormalities. These include abnormalities due to deletions, duplications, translocations, inversions, or rings. Deletions are when a part of a chromosome is either missing or deleted. An example of disorder caused by deletion is Wolf-Hirschhorn Syndrome which occurs due to partial deletion of the short arm of chromosome 4. Duplications occur when a portion of a
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.
Turner syndrome is a chromosomal disorder that affects development in females. This condition is caused by a missing or incomplete X chromosome. In 1938, Henry Turner, an American endocrinologist, described seven women with short stature, lack of sexual development, neck webbing (extra skin on neck), low hairline, and cubitus valgus (arms that turn out at the elbow). Years earlier, Otto Ullrich, a German geneticist, independently described an 8-year-old girl with short stature, swelling of the hands and feet, neck webbing, and several other features now associated with Turner syndrome. In the 1940s, endocrine and pathology studies confirmed that the sexual immaturity seen in these patients was due to ovarian failure. In 1954, Paul Polani and his colleagues provided the first link between Turner syndrome and sex chromosome abnormality when they reported three patients with this condition who were sex chromatin negative. With the advances in chromosomal analysis, it was revealed that Turner syndrome was associated with the presence of a single X chromosome. Other names used to refer to this disorder include TS, monosomy X, and Ullrich-Turner syndrome.
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).