DiGeorge Syndrome: A Study in Chromosomal Errors DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted‚ causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth‚ presence of "cleft" palate (opening in the roof of the mouth)‚ learning disorders‚ autoimmune diseases (such as rheumatoid arthritis)‚ hypocalcaemia (low presence of calcium in blood)‚ speech disabilities
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Patient C is a male with Patau’s syndrome. This syndrome is also referred to as trisomy 13. It is caused by a chromosomal abnormality‚ in which some or all the cells in the body contain extra genetic material from chromosome 13. The chromosomal condition is often associated with a severe intellectual disability and several physical abnormalities. Patau’s occurs in about 1 in 16‚000 infants. Women of all ages have a chance of giving birth to a child with this condition‚ but the risk increases as
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Turner syndrome is named after Henry Turner who‚ in 1938‚ was one of the first doctors to report on the disorder in medical literature. Turner syndrome is one of the most common chromosomal disorders and is one of the most common genetic disorders found in females‚ it is a rare chromosomal disorder that affects only females. This condition occurs in about 1 in 2‚500 female births worldwide‚ but is much more common among pregnancies that do not survive to term‚ like miscarriages and stillbirths.
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Trisomy 18 also known as Edward’s syndrome‚ is the second most common aneuploidy in comparison to Down Syndrome or Trisomy 21. Edward’s syndrome is a chromosomal condition prompted by an error in cell division. This prognosis is very rare and as a result there are fewer than 20‚000 cases per year in the United States. Due to several life-threatening medical problems in correspondence to this demoralizing condition‚ many individuals with Edward’s syndrome die before birth or within their first month
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Noonan Syndrome Noonan syndrome is a genetic disorder that was once known as Turner-like syndrome. It is a mutation of several genes where they develop proteins that are continuously active; which ends up disrupting the control of the cells growth and division resulting in abnormal developments of the body. Noonan syndrome can affect a person’s physical appearance in multiple ways‚ along with their mental state of mind. This syndrome equally affects males and females. Noonan syndrome was first
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Angelman Syndrome In America‚ about 6 million students are known to have some kind of intellectual disability. Intellectual disabilities are not always determined by the IQ level of an individual but rather how they react to their peers‚ self-perception‚ problem solving‚ personal care‚ etc.. It could develop before birth‚ after birth or even in one’s later life. Usually‚ these disabilities are caused by mutation in one of the chromosomes of a fetus. For example‚ some syndromes are the result of
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Patau syndrome is a disorder that occurs due to the appearance of a person’s thirteen chromosome three times (trisomy 13) instead of only twice in the cell. In some cases of the disorder‚ only a select percentage of the cells display the third thirteen chromosome while others contain the average amount of pairs‚ this is known as mosaicism. The extra chromosomal material in the cell can lead to many problems in the developmental stages of the humans life‚ these developmental issues cause severe mental
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A developmental study of auditory preferences in infants with Down’s syndrome and non-handicapped infants when hearing familiar and unfamiliar voices singing nursery rhymes The auditory preferences of 20 non-handicapped infants and 20 infants with Down’s syndrome will be studied at the ages of 6 months and 12 months. A digital apparatus allowing infants to choose whether to listen to one of two auditory stimuli will be used as a measurement of their preferences. Sounds used will include two familiar
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Fryns syndrome is a rare congenital disorder that affects the development of the body and is characterized by coarse facial features‚ diaphragmatic hernia‚ pulmonary hypoplasia‚ distal digital hypoplasia‚ and other various associated anomalies.. There is a 25 percent risk of recurrence and the prevalence of Fryns is 0.7: 10‚000 births in France [2]. It affects 1:15‚000 live births [3]. J. P. Fryns first described Fryns syndrome in 1979. It was first described with two still born female siblings
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Research Paper 2: Angelman Syndrome Angelman Syndrome (AS) also known as Happy Puppet Syndrome was originally founded in 1965 by an English physician named Dr. Harry Angelman. (NORD 1) According to the Genetics Home Reference‚ “AS is a complex genetic disorder that primarily affects the nervous system”.While exact numbers are unknown due to the fact that some cases are misdiagnosed as cerebral palsy or Autism‚ it is believed that about 1 in 15‚000 people have AS‚ ( Genetics Home Reference 2)
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