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
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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
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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
Women have two X-chromosomes so that is why they will not have the disease. They have one defected gene and one normal. Their normal
About 1/3 of students diagnosed with familial dysautonomia have learning disabilities, including short attention spans. As the children grow older, their symptoms worsen. They have more difficulty walking. They may have lung damage from repeated lung infections. Their vision becomes worse, as their optic nerves
ABSTRACT Trisomy 18 is a common autosomal trisomy syndrome. It is due to either full or partial presence of an extra copy of chromosome 18. Its prevalence correlates positively with advanced maternal age. Affected infants usually exhibit a variable pattern of anomalies including growth restriction, marked psychomotor and cognitive disability and an array of physical findings including characteristic craniofacial features, clenched fists with overriding fingers, small fingernails, underdeveloped thumbs, short sternum and heart and kidney anomalies. The majority of these infants die within the first year of life; only 5% to 10% of them survive longer.
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
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.
Because the muscle cell division and gradually lost, resulting in progressive muscle weakness. Duchenne muscular dystrophy type only affects boys. According to the article, Duchenne muscular dystrophy is caused by an X-linked gene, That is, this gene is on the X-chromosome; Children have two such genes, while the boys are only one That is to say, only the boy will be affected by this disease, but their mothers may be carriers. In fact, at present Nearly half of all sick boys are shown to have this, Defective genes are due to genetic alterations or occur in boys themselves Mutations caused by other family members did not carry
“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
In 1866, John Langdon Down, a British physician, identified a group of people whose symptoms were very similar. These were: eyes that were upwardly slanting, a flattened back of the head, and fissured and poorly controlled tongues. The term “mongolism” was coined to describe these people with Down’s Syndrome. In 1959, Jerome Lejeune identified the disorder as a chromosomal condition. He saw that those with the condition had 47 chromosomes in their cells instead of the normal 46.
Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter Syndrome KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS GENETICS OF THE DISEASE While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts. This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is.
•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.
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”).
Once those results were in, they told me that he had a chromosome abnormality. They explained that there was an extra piece on chromosome 22. His final diagnosis at that time was mild cerebral palsy, hearing loss and multiple
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.
(Brenda Finucane, Knowledge and Perceptions About Fragile X Syndrome:, 2013) Children with Fragile X also suffer from frequent ear infections and sinusitis, low muscle tone, gastro-esophageal reflux connective tissue issues such as scoliosis, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints. Children with Fragile X also display specific behavioral characteristics. Behavioral disorders such as ADD, ADHD, autism and autistic behaviors are common in these children. (Brenda Finucane, Knowledge and Perceptions About Fragile X Syndrome:, 2013) Children with fragile X often exhibit social anxiety and other autistic behaviors such as hand-biting and/or flapping, poor eye contact, sensory processing disorders and social aggression.
If this egg or sperm is fertilize, then the baby will have three copies of the #21 chromosome, which is called trisomy 21, or Down syndrome. The features of Down syndrome are caused by that extra copy of chromosome #21 being in every cell in the body. When this cell with three 21 chromosomes continues to multiply, and the pregnancy is carried to term, a baby with Down syndrome will be born. That what happen to your baby as well when the baby is developing in your womb. When you baby boy developing there was a random error in cell division that results that result having an extra copy of chromosome 21.