The main symptoms of cri du chat are first and foremost is that when they are babies they have a very distinct high pitched cry that sounds like that of a cat‚ which explains the name cat cry syndrome‚ intellectual disabilities‚ delayed development and low birth weight. The other symptoms are abnormality of the voice‚ cognitive impairment‚ low set‚ posteriorly rotated ears‚ microcephaly (head is smaller than expected)‚ muscular hypotonia (decreased muscle tone)‚ round face‚ wide nasal bridge and
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Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) Abstract Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is a rare syndrome that not only causes physical conditions but emotional. The psychological effects of woman diagnosed with MRKH have never been fully discovered. The hypothesis and or purpose of this study is to evaluate self-report measures of psychological distress in woman with MRKH syndrome compared to woman without MRKH syndrome. A group of woman with MRKH will
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Micro-deletion syndromes Di- George syndrome Aetiology Deletion of part of the long arm in chromosome 22 at location 22q11.2(1) The most common deletion includes the TBX1 gene (85% individuals)‚ see figure 1 below. Defect in neural-crest tissue (thyroid‚ thymus‚ and conotruncal septum of the heart) due deletion of region in chromosome 22 (2) Inheritance pattern is autosomal dominant (2) Hypoplasia of thymus and parathyroid glands resulting in hypocalcemia Acronym CATCH22 is used for
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Down Syndrome Down syndrome occurs when there is an extra copy of chromosome 21. People with this abnormality is described to be having a physical feature like excess skin at the nape of the neck‚ flattened nose‚ single crease in the palm of the hand‚ small ears‚ small mouth‚ upward slanting eyes‚ wide‚ short hands with short fingers‚ white spots on the colored part of the eye. The condition is often associated with some level of mental retardation or learning disabilities. These individuals are
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Reye Syndrome Reye Syndrome is an extremely rare‚ non-contagious disease thought to be triggered by aspirin use. The actual origin of the disease is unknown. Reye’s Syndrome‚ occasionally called Reye-Jacobsen’s Syndrome‚ is known to follow any viral infection. Two of the most common viral infections it precedes is influenza‚ "the flu"‚ and chicken pox. A now-familiar warning on bottles of aspirin‚ most notably Tylenol‚ is not to give Tylenol to a child who is recovering from the chicken
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involved in their development. Duane syndrome is one example of these genetic diseases. People who suffer from this rare condition have the limited
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Münchausen Syndrome and Münchausen Syndrome By Proxy Münchausen Syndrome There are many syndromes in people’s lives. All of the sydromes have been effecting people’s health negatively in people lives since the existence of human being. One of the most interesting syndrome is Munchausen Syndrome. It is related to unreal illness. In other words‚ Some people who has münchausen syndrome can cause an illness own their own. Therefore‚ they are actually clever and have medical information. Due to their
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Turner Syndrome Turner syndrome affects 3% of all females prior to birth‚ with only around 1% of these ‘in utero’ cases surviving to term; it is not inherited from either parent‚ but purely a ‘chance’ mutation. Despite this‚ it has become the most common genetically determined abnormality amongst females‚ and can have detrimental effects on systemic wellbeing throughout life. Turner Syndrome is a sex-linked genetic disorder which only affects females‚ and can present symptoms in several organ
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Victoria Haskins Biology Honors Mr. Kelly March 6th‚ 2017 Edwards Syndrome Edwards syndrome‚ also known as Trisomy 18‚ is a condition caused by a mistake in meiotic cell division resulting in an extra chromosome 18 in a developing baby (Source 1). This condition disrupts normal development‚ potentially fatally‚ even before birth (Source 1). Major characteristics of the disorder include a delay in growth‚ a low birth weight‚ and other major medical complications (Source 1‚ Source 3). Professor of
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Savant Syndrome 1. How does Savant Syndrome help us understand the nature of intelligence? Savant Syndrome is an exceedingly rare phenomenon in which people with disabilities have remarkable abilities and talents. The uniqueness of this disease has enabled us to better understand the nature of intelligence and cognition. Savant syndrome helps us to better comprehend the specialization of the left and right hemispheres in our brain. Because savants are especially talented in areas such as numbers
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