Etiology, Incidence, Clinical Manifestations, And Diagnosis Of This Condition

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

Edward’s Syndrome is the second most common of the trisomy disorders, following Trisomy 21 (Down syndrome), but does not happen very often in developing fetuses. It occurs once in every 5,000 live-born infants, and most of these infants are female. Many times, the fetus that is affected with this disorder will not make it the full nine months. Other times, if the infant is born with the disorder they will only live for about a month or less. This disorder is seen more often when older women are pregnant, rather than young mothers. 10 percent of individuals with trisomy 18 will live past the first month, and some can even live into their twenties with severe developmental conditions and disabilities. The actual

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

In order to review their inherited genetic risks and help them understand and provide counseling according to their specific needs the genetic counselor should know the Trosacks ' have already established that their unborn child has Tay Sachs disease and based on those needs they should be provided with appropriate guidance and counseling as they progress through their pregnancy. The discussion should include what causes genetic disorders, and what that means to the Trosack couple specifically, including dominant, recessive and x-linked disorders. However, recessive disorders should be fully discussed in this case. Another topic to include in the discussion are what genes and chromosomes are, and the relation to Tay Sachs disease.

Approximately 1 in every 10,000 infants in the United States is affected with Rett syndrome (RTT), an X-linked neurodevelopmental disease. (Jin, Chen, & Xiao, 2017). Nearly all RTT patients are girls as the mutation on the male’s single X-chromosome tends to be prenatally lethal. The disorder was first described by Andreas Rett in 1966 and is characterized by apparent normal development for the first six to eighteen months of life, followed by the loss of intellectual functioning, acquired fine and gross motor skills, and the ability to engage in social interaction (Krishnan, Krishnan, Connors, Choy, Page, Peti, Van Aiest, Shea, & Tonks, 2015). Other clinical manifestations include seizures, disturbed breathing patterns with periodic

Achondroplasia is the disorder that I will be presenting. First, achondroplasia is a form of short-limbed dwarfism. It is where the cartilage it forms into bone instead just being around the bone. There is one gene and chromosome in specific that causes Achondroplasia. The FGFR3 gene and chromosome 4, they are mutated and cause this disorder. Last, there are many symptoms of Achondroplasia. Here are some of the symptoms, the breathing slows or stops for short periods of time, obesity, and recurrent ear infections. This is the description, causes, and they symptoms.

A delusion where the person is alive but is firmly convinced they are dead. This is called Cotard delusion or walking corpse syndrome.

The general public and even some medical professionals lacks in depth information on Necrotizing Fasciitis. Most Americans have not heard of it or do not have enough information about it to know what to do. It is commonly misdiagnosed and is often fatal because it is not caught in time. I will discuss what it is, what causes it, describe clinical presentation, treatment options, and the prognosis of this disease. In hopes that more people can be made aware of this deadly disease.

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.

Turners syndrome is a rare genetic condition that changes development in females, about 1 in every 2,500 to 3,000 females are born with this condition worldwide. Turner syndrome affects all races, nationalities and regions of the world equally. There are many symptoms of Turner's syndrome but the most common are: short stature, delayed puberty, infertility, and a webbed neck.

Chilaiditi sign was described in 1910 by a Greek Radiologist Dr. Chilaiditi. He described the findings observed in chest radiographs where part of a colon loop, usually the transverse colon, interposed between the diaphragm and the liver. The incidence worldwide is less than 0.3% with a men predominance 4 times more than women (1). Frequently it is an incidental finding but sometimes it may be associated with mild gastrointestinal symptoms including abdominal pain or bowel distention but also severe cases with a bowel obstruction (2) then it is called Chilaiditi syndrome.

Individuals impacted by Turner Syndrome (only affects females) are missing a sex chromosome in this syndrome the x chromosome completely or partially. Symptoms of Monosomy X include short stature, failure to begin puberty, heart defects, learning disabilities, and social problems. Monosomy X can be caused by a non-disjunction of the sex chromosome in a gamete either during meiosis phase 1 or meiosis phase 2. Turner Syndrome occurs randomly, so it can occur evenly likely every time a gamete is made. However, in 75%-80% of the time men are the ones with one less sex chromosome but again this is random. Surprisingly, Monosomy X is quite common appearing 1 out of 2000-2500 live births, and this syndrome also affects over 108,800 women just in the

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