Turner Syndrome

I never heard of anyone having a sex chromosomal abnormality. Klinefelter syndrome is a rare condition in males that is caused by an extra X sex chromosome. Males with the XXY chromosome pattern do not develop secondary sex characteristics. Males with Klinefelter syndrome have weaker muscles and may develop breast tissue. They are also infertile because they do not produce sperm. Turner syndrome occurs in females and is caused by having only one X sex chromosome. Most females with Turner syndrome do not produce estrogen and progesterone. This causes poorly developed breasts, no onset of menstrual periods, and possible infertility. However, a woman with Turner syndrome can usually carry a baby to term if another woman donates an ovum and it is fertilized in a laboratory dish and implanted inside

Trisomy 18 cannot be cured because you cannot fix chromosomes but only can fix the defects that occur because of the chromosomal disorder. This disorder is a problem with the number of chromosomes a person is born with. The 18th chromosome is half duplicated causing birth defects and problems in their development, also allowing only for a short lifespan. This disorder is not inherited, but instead happens randomly when the chromosomes of the mother and father combine and a third chromosome 18 is formed. There is no known cause for why this extra chromosome develops in the fetus.

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

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.

Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to it being an X-linked mutation and although it is genetic, it is not hereditary; it rarely affects boys, when it does the symptoms are more severe and the “babies rarely live past birth” (Bhandari, 2017). The babies usually go through a normal pregnancy and start to show symptoms after the first six months; they become more prominent at “12 and 18 months, and they can be sudden or progress slowly.” (Bhandari, 2017). Symptoms include “slowed growth, trouble with breathing, no language skills, problems with hand movements, muscles, and coordination” (Bhandari, 2017). There is no cure, but the best available treatments include “standard medical care

An example of a recessive x-linked disorder is fragile x-syndrome or FXS. Fragile x-syndrome affects a person’s behavior, learning, intellectual, as well as physical characteristics. Fragile x-syndrome is more likely to affect males over females and does not shorten their life expectancy. Males who have FXS can have ADD or ADHD, autism, aggression and other behavioral traits. Men can have physical alterations such as a long face, large ears, and flat feet. Women who have FXS can experience the same behavioral traits but are usually milder in comparison to men. The same is shown through the facial features for women (National Fragile X Foundation,

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

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

About 10% of all miscarriages have this disease to blame. Turner syndrome happens when a female’s X chromosome has both X’s in one cell, but not others (called Mosaic Turner Syndrome), or entirely missing (called Monosomy). It can also happen when instead of two X chromosomes, there’s one X and a small part of a Y chromosome. The girl will still develop as a female, however. All of these forms of Turner Syndrome can result in physical problems like heart or kidney defects, a shorter than normal stature, a failure to start puberty, and infertility, and mental problems like learning disabilities and social adjustment problems, to name just a few symptoms.

known risk factor is advanced maternal age-at age 35, a woman has 1 chance in

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.

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

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