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Turner Syndrome Research Paper

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Turner Syndrome
Turner Syndrome occurs in females who lack part or all of their second X chromosome. Their genotype for sex chromosomes is XO. Almost all people (approximately 95%) with Turner Syndrome have a short stature and signs of ovarian failure. It can be treated with hormone therapies.
The severity of problems caused by Turner Syndrome varies among different individuals. At its most mild, someone with Turner Syndrome could be mostly affected only in appearance and have only slight or no medical problems. Some individuals with Turner syndrome have a short, webbed neck, a low hairline at the back of their neck, and low-set ears. They can also have colored spots or moles on their skin. A person with severe Turner Syndrome could be affected …show more content…

Males with XYY syndrome do not typically have unusual physical features, except that they may be taller than average. They have an increased risk for learning difficulties, especially in reading and speech, and delayed development. Men with XYY syndrome have normal, heterosexual function and most are fertile.
Many males who are affected are not heavily affected by Jacobs Syndrome and since they do not look any different than normal males, many men who have Jacobs Syndrome are never identified. They usually have normal or slightly lower than normal intelligence. They may need extra assistance in certain academic subjects. Hyperactivity and temper tantrums can also occur more frequently than expected during childhood. At the more severe end of the spectrum, affected people’s speech and language delays and disabilities may be more serious and they can be diagnosed with a specific speech or language disorder which may require therapy.
Most males who have Jacobs Syndrome have a very good prognosis, as learning disabilities that are caused by this condition are mild and most people with this condition learn how to control their behavioural problems with age. People affected by Jacob Syndrome have normal lifespans.
Triple X …show more content…

Occasionally, cases of Triple X Syndrome can cause premature ovarian failure, infertility, problems relating to puberty and menstruation, kidney and heart abnormalities, and seizures. The more severe a case of Triple X Syndrome is, more of these signs become present and are more extreme. In a severe case, there could be moderate to severe intellectual disabilities, long delays in development and acquisition of skills, and major physical abnormalities and problems.
Women who have Triple X Syndrome can and usually do learn to manage with their condition, as it usually does not have overly strong effects. They can, for the most part, lead normal lives. Their lifespan is not heavily affected by Triple X Syndrome.
Down Syndrome
Down Syndrome occurs when an individual receives an extra copy of chromosome 21. It can affect both males and females. Regardless of the severity, people with Down Syndrome have a characteristic appearance. Physical signs of Down Syndrome include a smaller and abnormally shaped head, flattened nose, small ears and mouth, upward slanting, rounded eyes, and short, wide, hands with short

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Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and

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Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.

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“Every human has an MAOA gene. ... The MAOA gene is located on the X chromosome, which means that while women have two copies, men only have one.... There are a few variants of the gene, one of which -- MAOA-3R, present in about 30 percent of men -- has been shown over and over again, in

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There are multiple facial features that will occur when a child has FAS, however these symptoms will vary from child to child and depend on the severity of the condition. Children who suffer from FAS may have an extremely thin upper lip, smooth skin between the upper lip and the nose, a small, upturned nose, and small eyes. Other deformities can include slow physical growth after birth, vision and hearing struggles, deformities of the joints, limbs and fingers, have a small head and small brain size, heart defects, skeletal issues, and digestive

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According to S Muñoz and J Méndez’s study in Chromosoma, 2017, this mutation was inevitable due to a variety of factors, such as chromosomal anomalies, environmental factors, and the like. Specifically, chromosomal anomalies can cause an increase in chromosomal breakage, which can lead to genetic mutations. This increase in chromosomal breakage can be brought on by a variety of environmental factors, such as exposure to radiation, chemicals, or even high temperatures. In Jackson's case, it was likely that his retardation was caused by a combination of these factors. Additionally, Muñoz and Méndez's study found that the genetic mutations that cause retardation are often passed down from parent to child.

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•Incompetent Cervix is a condition that occurs when the weak cervical tissue causes or contributes to premature birth or the loss of an otherwise healthy pregnancy. •Many women first become aware of incompetent cervix after losing their first pregnancy. Most often, the woman has a birth defect that affects the normal shape of the uterus or cervix, but they have no history to indicate the condition. Women who may be at risk for incompetent cervix include those who: had a previous D&C or those who had a previous surgery for an abnormal pap smear or those who had a damaged cervix.

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In 1966 he published his findings which brought the disease to light and led to the proper diagnosis across the world. Research by other physicians took off and in 1987 the number of confirmed Rett cases was 1,250. It wasn’t until 1999 that the MECP2 gene was discovered on the X chromosome by Ruthie Amir (1988). The National Organization for Rare Disorders (NORD) recognizes Rett Syndrome as having two basic forms: classic Rett Syndrome, and a milder form, atypical Rett Syndrome.

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An abnormal gene transmitted as an autosomal recessive trait from parent to child causes this syndrome. Both parents must be carriers of the gene to produce a child that inherits two defective genes (Lanza,2006). Children that inherit only one of the abnormal genes will be a carrier and unlikely to exhibit symptoms of the disease. The gene with this defect is on a chromosome that is not a determinant in the sex of the child, and therefore BSS can affect both males and females equally

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One main example of children with Down syndrome is a kid named Wyatt. Wyatt is a boy in sixth grade that was born with Down syndrome. Since the start of his life, it has been a challenge for him and the people supporting him. According to a Medline Plus article defining Down syndrome, “Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate” (“Medline Plus”).

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a. The majority of the people diagnosed with Down Syndrome have it because of a faulty cell division called nondisjunction i. Nondisjunction happens with one of the pairs of the chromosomes fail to separate, resulting in the three 21 chromosomes ii. Total number of chromosomes equals 47 b. According to …. 3-4% of Children with Down Syndrome get it through gene translocation i. Gene translocation happens during cell division. This happens when part of the chromosome 21 breaks off and attaches to another

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Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder.

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I observed a four year old girl that was tiny for her age. She worked on proprioceptive and vestibular input like the other children. One major difference is that her condition has not been diagnosed. The doctor suspect a chromosome issue, but her family has not gone for additional testing. Although she can recognize shapes, colors, and letters, she is still delayed.

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Well in the article "Color Vision Deficiency" by Genetics Home Reference, it helps us understand that color blindness is inherited in an X-linked recessive pattern. They also state that, "The OPN1LW and OPN1MW genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one genetic change in each cell is sufficient to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females because in females (who have two X chromosomes), a genetic change would have to occur on both copies of the chromosome to cause the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

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They can have upward slant to the eyes, small ears, and a bulge tongue (Susan Skallerup).Low muscle tone is also component of children with DS, and babies in particular may seem especially "flabby." Sometimes this can and often does improve over time; most children with DS occasionally reach developmental milestones like sitting up, crawling, and walking. Their development is usually later than other kids (Kathryn L,

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