Turner Syndrome Analysis

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

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.

Turner syndrome results in a monosomie of chromosome X and is the only viable monosomie known. One in every 5,000 newborns can inherit this disease. The mental abilities are not affected, although they are usually sterile owing to underdeveloped sex

Most of the girls that have Turner Syndrome are way shorter than average girls. The girls often have their normal height up to three years old. After they are three the growth rate starts to slow down. Ovaries that are non-functioning are other symptoms of Turner Syndrome. A girl’s ovaries begin to produce sex hormones at puberty. This doesn’t happen with most girls who have Turner Syndrome. Most don’t start their periods or develop breast

Fragile X syndrome is among the common inherited cause of intellectual disability and single cause of autism. This is caused by the lengthening of the X chromosome and although both male and female can be affected, males are more prone to be affected than females – with the ratio of 1/4000:1/8000 (1). This is because males have only one X chromosome, while female has two. Females can be a carrier of this gene defect but their other X chromosome would still be able to make the protein, whereas male, only possessing one X chromosome would be more affected. Symptoms of this mutation includes behavioral and learning disabilities, autism disorder, elongated and narrow face (macrocephaly), macroorchidism

The X and Y chromosomes are what determine the gender of a person. Depending on whether the sperm that impregnates a female carries an X or Y will determine the gender of the offspring. A Y chromosome will cause the offspring to be male while if the offspring has an X it will be female. Some offspring will be born with more X’s or Y’s often know as klinefelter syndrome, XXXY syndrome, 49,XXXXY syndrome, XXX syndrome, and tetrasomy X. Males with klinefelter syndrome, XXXY syndrome, and 49, XXXXY syndrome are still male though many suffer from shorter stature, enlarged breasts, hypogonadism, cryptorchidism, and deficient growth hormones. Women who have XXX syndrome and tetrasomy X are still female, but women with XXX syndrome will

X-linked recessive don’t affect females because females have two X chromosomes. However, females who inherit the mutation will become carriers. If a male inherits the mutation from his mother, he will not have a normal copy of the gene and will develop the condition. When a mother is a carrier of an X-linked mutation, each daughter will have one in two (50%) chance of becoming a carrier and each son will have one in two (50%) chance of inheriting the condition. When a father has X-linked condition, his sons will not be affected because he will pass on a Y-chromosome. However, any daughters he has will become carriers of the mutation. The genetic conditions inherited include Duchenne muscular dystrophy, haemophilia and fragile X syndrome.6

Turner syndrome is caused by the partial or complete loss of one X chromosome in females. Turner syndrome can only happen

What is Turner Syndrome? Turner Syndrome was named after Dr. Henry Turner who discovered it in 1938, but also referred to as Ullrich-Turner, Bonnevie-Ullrich-Turner, and Gonadal Dysgenesis. This syndrome occurs in 1 out of 200,000 females. Making it a rare syndrome that only 70,000 people in the whole world has. Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Genes are passed on to a child from each parent, in structures called chromosomes. You have 23 pairs of chromosomes in each cell of your body. Each chromosome contains thousands of genes. Our genes determine how our body functions, what we look like and sometimes what diseases we will get. A female

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.

Men with this condition have longer legs, a higher voice, and a thinner beard than average men do. Their testicles are smaller than usual and do not produce functioning sperm cells, so the men are infertile. Compared with other men, they have lower levels of androgens (male hormones) and more estrogens (female hormones). For this reason, they often develop gynecomastia (benign male breast growth) and have an increased risk of male breast cancer.

Due to the wide variability of the many symptoms and effects, affected males with KS may have all of the symptoms and some may only have a few of the effects. Common symptoms are sparse body hair, tallness, infertility, small testes, and gynecomastia. As said before, many males with Klinefelter syndrome do not show many of these effects on the body but that does not mean that

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

     Mosaic Trisomy 21 happens when an egg or sperm come in with an extra copy of chromosome 21, then,

The results indicate that their baby is a female with Turner Syndrome. This condition is caused by a missing X chromosome and results in short stature, ovarian failure, and medical problems involving the heart, thyroid glands, and kidneys. Some of these conditions can be treated and managed with great success. The question that arises after diagnoses