Turner Syndrome Analysis

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

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.

As a result, the missing chromosome can cause over 50 abnormalities that include: Anderman syndrome, Angelman syndrome, ataxia neuropathy spectrum, Bloom syndrome, breast cancer, Marfan syndrome, Prada-Willis syndrome, Tay-Sachs disease, and a lot more, depending on which gene is affected. Generally, the most common observable behaviors are: intellectual disability, seizures, psychiatric disorders, distinctive facial features and moodiness. Of particular interest is Angelman syndrome which is also a sex-linked disorder. But regardless of the source of inheritance, this disorder can be observed as any of the above listed behaviors or medical

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

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

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.

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

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

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

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.

Numerical abnormalities, or aneuploidy, is when an individual is missing a chromosome or has an extra chromosome. Monosomy is when there is only one chromosome present from a pair due to nondisjunction at the second division of meiosis. The only known viable case of monosomy, is Turner’s syndrome, where an individual only have one sex chromosome . Trisomy are cases where there are three of a particular chromosome when there should only be two present. Cases of an additional chromosome are seen in both autosomal and sex chromosomes. Majority of cases are not viable, however there are common types that do survive. The most notable cases are trisomy 21 and Klinefelter syndrome. Trisomy 21 is a genetic disorder of chromosome 21 having three copies, causing intellectual and physical growth delays. The four types of structural abnormalities are chromosomal deletions, duplications, translocations, inversions, and rings. When chromosome mutations are created, either through a mistake in cell division or by a mutagen, protein synthesis is affected. The structural changes can produce a varying degree of developmental difficulties in an individual, depending on which genes experiences the structural change. Chromosome changes are often damaging to an individual causing developmental difficulties and in some cases death can be an outcome. A deleted section of a chromosome can result in developmental delay, heart problems, behavioral problems, delayed muscle development, and

The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.

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

A treatment that girls with Turner Syndrome need is fertility treatment if they want to have a baby. Growth hormone treatment will help girls with it grow to normal height and they need it all the time. They might also have to go to the doctors to make sure everything is okay a lot to live a healthy life. The prognosis for people with Turner Syndrome is good. A big amount of people with it will still be shorter than normal and it will still be hard for girls with it to get preganant but they still

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.