To the parents of Madison Rigby, Congratulations on your new member of your family. Your baby has recently been diagnosed with Velocardiofacial syndrome. It is also commonly called DiGeorge syndrome or Deletion syndrome. It is caused by a deletion of chromosome 22q11 or chromosome 22. It happens when a small piece of genetic material is missing. Because there is a copy of this chromosome from each parent something could've gone wrong in the sperm cell or egg cell. It is completely random. Some
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child not achieving developmental milestone at the normal age range. There are five developmental delays, gross motor, fine motor, language, cognitive and social. Genetic plays a factors in some developmental delays such as Down syndrome, Fragile X syndrome, rett syndrome, and muscular dystrophy. These multiple delays influence physical, and social developments. An example of a delay could be if the child was born prematurely, or if the mother had an infections like chlamydia and passed it to
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Edward's Syndrome Edward's Syndrome, also known as Trisomy 18 Syndrome, was discovered in 1960 by Dr. John Edward. It is a very rare inherited genetic disorder that is likely in one out of every five thousand births. Children with the syndrome have an extra chromosome 18, causing the child to have many malformations and mental retardation. Nineteen out of twenty of the children with the Edward's Syndrome die before their first birthday. There are three types of the Trisomy 18 Syndrome. The first one is most common it's called Full
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Doctors have been left baffled after a Chinese pensioner woke from a two-week coma speaking perfect English - but not a word of her native language. Liu Jieyu, 94, had been unconscious for a fortnight after suffering a stroke, which doctors had feared she may not recover from. When she finally awoke, the retired teacher asked in perfect English: 'Where am I? What is happening?' Surprised doctors were left even more confused when it became clear Ms Jieyu - who used to teach English - had lost all
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Cri Du Chat Syndrome. I believe that this type of disease will be very interesting to learn about. This type of syndrome is French for “Cry of the Cat” Children with this condition often have a high pitched cry that sounds like a cat. Cri du Chat Syndrome can affect a male or female. Cri du Chat is one of the most common syndromes caused by a chromosomal deletion. It affects between 1 in 20,000 and 1 in 50,000 babies. Approximately 50 to 60 children are born with cri du chat syndrome in the United
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When people first found out about Angelman syndrome they called it ‘happy puppet syndrome’ but when Harry Angelman discovered more about it the name turned into Angelman syndrome. When people have Angelman syndrome people have to alter their life to fit their necessities. Characteristics of Angelman syndrome causes peoples skin, eyes and hair to be very lightly colored. People with Angelman are usually are very happy all the time and clap a lot but need a lot of attention. The facial features are
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genetic mutation of what causes Prader-Willi Syndrome (PWS) as well as considering the symptoms and treatments. PWS is a genetic disorder affecting chromosome 15 within three mutations. It could result from a microdeletion or disruption of genes of the paternal chromosome 15, maternal uniparental disomy of chromosome 15, or a mutation that inactivates chromosome 15 on the paternal copy. Based on these mutations, the most common symptoms of this syndrome are behavioral problems, intellectual disability
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Chronic Pain Syndrome and/or Chronic Fatigue Syndrome. Did it, we will examine that here. Depending on who you talk to Fibromyalgia exists, Endocrinology says no and Neurology says yes. Who’s right, which is what we will find out? What we do know; “Fibromyalgia is a chronic musculoskeletal syndrome characterized by widespread joint and muscle pain, fatigue, and tender points” (McCance RN & Huether RN, 2010, p. 1606). If that is Fibromyalgia does that not describe Chronic Pain Syndrome? Well yes
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Chronic Pain Syndrome and/or Chronic Fatigue Syndrome. Did it, we will examine that here. Depending on who you talk to Fibromyalgia exists, Endocrinology says no and Neurology says yes. Who’s right, which is what we will find out? What we do know; “Fibromyalgia is a chronic musculoskeletal syndrome characterized by widespread joint and muscle pain, fatigue, and tender points” (McCance RN & Huether RN, 2010, p. 1606). If that is Fibromyalgia does that not describe Chronic Pain Syndrome? Well yes and
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For the reasons which have determined the existence of Sussex as a county of England, and which have given it the exact boundaries that it now possesses, we must go back to the remote geological history of the secondary ages. Its limits and its very existence as a separate shire were predetermined for it by the shape and consistence of the mud or sand which gathered at the bottom of the great Wealden lake, or filled up the hollows of the old inland cretaceous sea. Paradoxical as it sounds to say
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