Turner syndrome, also known as Monosomy X, is caused by the deletion of the second X chromosome in females. This can be a partial deletion or a complete deletion. It is caused by a random error called nondisjunction, which is “the failure of sister chromatids to separate during or after meiosis” (Biology Online, 2008). This can lead to an abnormal amount of chromosomes. In this case, it leads to an abnormality in the sex chromosomes leaving the woman with one functioning X chromosome. While the specific genes that cause Turner syndrome are unknown, researchers “have identified one gene called SHOX that is important for bone development and growth” (National Library of Medicine, 2013). It is believed that a missing SHOX gene is the reason behind the female’s short stature and skeletal abnormalities. Due to the random nature of this syndrome, it is usually not inherited or passed down. The loss or mutation of the X chromosome is spontaneous; therefore there is no real pattern of inheritance. Also, it is very unlikely for a woman with Turner syndrome to pass it down to her daughter. Women with Turner syndrome have one functioning X chromosome. If the woman does become pregnant, she will only be able to pass down the functioning X to her child, meaning the daughter will not have Turner syndrome unless she goes through the same random mutation. According to the Turner Syndrome Society (2016), woman with Turner syndrome can experience signs and symptoms such as short stature, a
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
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.
Trisomy 21, also known as nondisjunction, means that there is an extra copy of chromosome 21 in the cell and is the most common. Translocation occurs when there are two 21 chromosomes plus an extra piece of chromosome 21 that had attached itself to another chromosome during the division process. Those who have mosaic down syndrome contain an extra chromosome 21 in only some of their cells while others are unaffected. People with mosaic down syndrome tend to have milder physical features and intellectual abilities than those who have trisomy 21 and translocation down syndrome. According to Mark Selikowitz, maternal age is a significant factor in causing trisomy 21. When females are born, all the eggs that a woman will produce are already present. The eggs wait years, some longer than others to be released and it is during the wait period (some 20-40 years) that it is believed errors can occur. On the contrary, man’s sperm does not remain standing therefore less probability for error. Additionally, people with a family history of down syndrome and people who carry the genetic translocation are factors to consider whether the child would be at
The mother, who is a carrier, inherits an X-Linked or sex-linked faulty gene. The result is producing an affected son and or a daughter being a carrier. The second way is an affected male producing children, particularly daughters. All daughters born to fathers with x-linked muscular dystrophy will be carriers; on the contrary their sons will be unaffected. Scientists link this to a genetic mutation in the gene, appearing most often for the first time in a family.
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.
When a son is born to his mother, with a dystrophin mutation on one of her two X chromosomes has a chance of inheriting the flawed gene, and also having DMD. As for the daughters,
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,
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.
If the mutated gene attaches itself to one of the sex X chromosomes, then the condition will be considered as X-linked. If one of the altered gene copies is capable of causing the condition in each of the individual’s cells, then the Fragile X syndrome condition is referred to as dominant. However, it has been discovered that sons will never inherit the gene from fathers as the X chromosomes are the only genes responsible for the genetic condition. Sons can only inherit the genes from their mothers (McLennan, 2011). This fact is very unusual considering that males are more severely affected by the conditions than their female counterparts. It can be said that some females act as carriers of this gene which then establishes itself as dominant in males, whereas in females it might be recessive. With the prevalence of this condition, it ranks as the most common inherited genetic and intellectual
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
A person that has Down syndrome may have some physical problems or disabilities. Some common physical problems are: short necks, poor muscle tone, a small head and an overall smaller body. Approximately one third of babies born with Down syndrome have heart defects, most of which are now
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