This disease affects about one in 1,000 females. Triple-X syndrome only affects females because the chromosomes that are affected by this disease are the sex chromosomes, 23rd chromosomes. Description of the Symptoms Triple-X syndrome is generally goes undiagnosed throughout the child’s life. Some symptoms are the child is taller than average, delayed speech, and learning disabilities. Some rare symptoms are premature ovarian failure, infertility, and seizures.
All muscular dystrophies are caused by genes parents pass the child 's legacy Transmission unit defects. Because the muscle cell division and gradually lost, resulting in progressive muscle weakness. Duchenne muscular dystrophy type only affects boys. According to the article, Duchenne muscular dystrophy is caused by an X-linked gene, That is, this gene is on the X-chromosome; Children have two such genes, while the boys are only one That is to say, only the boy will be affected by this disease, but their mothers may be carriers. In fact, at present Nearly half of all sick boys are shown to have this, Defective genes are due to genetic alterations or occur in boys themselves Mutations caused by other family members did not carry
Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays.
Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan. Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature.
DISCUSSIONS Hysteroscopy was done on the patient to diagnose her condition and also to take the biopsy of her endometrium. Will it cause the tumor to get spread even more during the procedure? Or is there any better option than that? First, the diagnosis should depend on the patient’s presenting complaint, symptoms, signs, and also the risk factors associated with them. In this case, she presented with postmenopausal bleeding, which endometrial carcinoma become the main differential diagnosis until it is proven otherwise.
Brooke Martin Report #2 - Prader-Willi Syndrome Prader-Willi Syndrome, an imprinted disorder, is caused by the absence of paternal chromosome fifteen, at least in approximately seventy percent of all cases. In other unlikely cases, a child may have inherited two copies of chromosome fifteen from its mother, which is referred to as maternal uniparental disomy. Similarly, in vitro fertilisation may increase the risk of a mother birthing a child with an imprinted disorder. PWS can cause delayed development, low muscle strength and tone, stunted growth, difficulties feeding, obesity, infertility, and behavior problems. Infants with PWS have “insatiable appetites” which causes them to overeat and can result in obesity into adulthood, and even death,
What research has found is that there is a link between autism and “exposure to metabolic abnormalities during a crucial part of fetal brain development” (Healy 1). Researchers have also found a link that the sperm from men who have autistic children have distinct patterns to the way the sperm regulate gene activity (Healy 1). The mother having Type 2 diabetes has also been a repeating factor to children developing autism. The risk is greater when the mother develops the Type 2 diabetes during pregnancy. These findings not only prove that the link of autism to vaccinations is completely false, but a child’s chance of being autistic stems from before or during pregnancy, way before a vaccination is given to the
Treatment Options for Femoral Anteversion By Liji Thomas, MD Femoral anteversion refers to medial torsion of the femur which is a normal variant in most children but may be excessive in a small minority. In them it leads to in-toeing of the feet and a clumsy gait while walking or running. The physician then has several possibilities. A decision is made based upon the child’s age, previous and current medical history, health status and the problem posed by the torsion. Observation Most children with femoral anteversion show complete correction over the course of years.
Parents will then notice that their baby startles easily in response to any noise whether it happens to be loud or quiet. The babies appear to be unaware of their surroundings, and has extreamly poor vision at this point and extream muscle weakness with floppy limbs. Other developmental and behavioral abnormalities will be shown by this point also. However, by the two year mark, most children that suffer from this horrific disease will begin to suffer from uncontrollable seizures, they will have diminishing mental compacity amd lose any physical skills that they once had, such as sitting, crawling or even walking. Unfortuently there is yet any cure for Tay-Sachs Disease (TSD) and eventually the child will become blind, paralyzed and nonresponsive and sadly will die before their fifth birthday.
Duchenne muscular dystrophy is a form of muscular dystrophy that only affects boys. Cardiomyopathy is present in around twenty-five percent of patients at age 6, and increasing as age goes up to fifty-nine percent at age 10. At eighteen years of age over ninety percent of patients have Cardiomyopathy. There is no known cure available at this time; but there are treatments that include steroid administration, and assisted ventilation. The absent dystrophin in Duchenne muscular dystrophy is due to a frame shift in the gene.