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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Chromosomal Disorders 1. Name the condition. Edwards Syndrome (or Trisomy 18) 2. Outline the chromosomal abnormality. Trisomy 18‚ or Edwards syndrome‚ occurs when a person has a third copy of material from chromosome 18 instead of the usual two copies. 3. What chromosomes are involved? Chromosome 18 is the only chromosome involved with this disorder. 4. What does it affect? The majority of children born with Edward ’s syndrome appear both fragile and weak; many are underweight. Their
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Aarskog Syndrome Description Aarskog syndrome (also known as Aarskog–Scott syndrome‚ faciodigitogenital syndrome‚ shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person’s height‚ muscles‚ skeleton‚ genitals‚ and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately‚ Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born
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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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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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Edwards Syndrome‚ also known as Trisomy 18‚ is a genetic syndrome of severe to profound mental retardation. It is caused by the presence of an extra chromosome 18 in some or all of the cells in the body. Babies with this condition typically do not survive but for a few months after birth. About sixty percent of newborns with this condition die within the first week‚ and eighty percent do not survive through the first month
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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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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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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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