Sudden Infant Death Syndrome Sudden Infant Death Syndrome (SIDS) is defined as “an unspecified medical entity: the sudden and unexpected death of a reasonably healthy child‚ whose passing away remains uncertain following the performance of an adequate assessment of medical history‚ autopsy‚ and death scene examination”(Valdes-Dapena‚1979). SIDS is one of the predominately-unsolved problems of infancy. The number of infants who die each year of SIDS is greater than the number of children who die
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The History of Fragile X Syndrome. The first appearance the Fragile X syndrome was in 1943 when doctors Martin and Bell discovered that a specific form of mental retardation was X-linked. Both go on to describe a pedigree of X-linked mental disability. (Martin & Bell‚ 1943). Fragile X Syndrome has not been around for that long‚ actually less than eighty years. Later in 1969‚ Herbert Lubs a doctor developed the chromosomal test for Fragile X chromosome. Lubs accomplished this chromosomal test by
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Facet Syndrome Facet syndrome is a condition in which joints (facet joints) that connect the bones of the spine (vertebrae) become damaged. Facet joints help the spine move‚ and they usually wear down (degenerate) or become inflamed as you age. This can cause pain and stiffness in the neck (cervical facet syndrome) or in the lower back (lumbar facet syndrome). When a facet joint becomes damaged‚ a vertebra may slip forward‚ out of its normal place in the spine. Damage to a facet joint can also
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Jacquelyn Rivera Biology 1st block March 10‚ 2017 Angelman Syndrome Angelman syndrome is a rare genetic disease because of paternal DNA patterns‚ missing chromosomes‚ and gene mutation. It is caused by many symptoms and there are many signs to know if you have Angelman syndrome. There is treatment for AS‚ but there is no cure. Angelman syndrome (AS) is a neurodevelopment disorder can be caused by genetics. AS causes cognitive disability‚ motor dysfunction‚ speech impairment‚ hyperactive‚ short
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Sturge-Weber Syndrome Sturge–Weber Syndrome (SWS)‚ also referred to as encephalotrigeminal angiomatosis‚ is a rare congenital neurological and skin disorder. It is often associated with port-wine stains of the face‚ glaucoma‚ seizures‚ mental retardation‚ and ipsilateralleptomeningeal angioma. It is characterized by abnormal blood vessels on the brain surface. Normally‚ only one side of the brain is affected. SWS is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal
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Fingers in both hands were small and tapering. Rest of the examination‚ including fundi was normal. EEG/ECG and CT scan did not reveal any abnormality. Chromosomal analysis was not carried out. This child had characteristics features of Rett syndrome including the age at onset‚ loss of communication and acquired hand
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Down syndrome (Trisomy 21) Down syndrome is a genetic disorder that occurs when an individual has an extra chromosome 21 in them. Down syndrome can also be referred to as ‘Trisomy 21’. An English physician named John Landon Down first discovered Down syndrome back in 1862. This genetic disorder has been around since the 16th century and possibly even longer. The treatments for Down syndrome are not distinct as it depends on how severe the Down syndrome is. Down syndrome or Trisomy 21 was
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Abstract Down syndrome‚ also known as trisomy 21‚ is the most common chromosome abnormality in humans and it occurs in all races. Approximately 1 of every 691 babies born in the United States each year is born with this genetic condition. Because people with Down syndrome have extra copies of genes on chromosome 21‚ the course of normal development is disrupted and this leads to the distinctive physical characteristics and other health issues that are associated with this syndrome. With appropriate
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Fetal alcohol syndrome refers to a group of conditions caused by alcohol consumption during pregnancy (CDC‚ 2015). This set of conditions (FAS) encompasses a full range of prenatal alcohol damage that can vary from mild to severe. Fetal Alcohol Syndrome can cause physical deformities‚ behavioral problems‚ learning disabilities‚ motor or neurological deficits‚ or a combination of these effects (CDC‚ 2015). Alcohol falls under the chemical category of teratogens‚ which enters the mother’s bloodstream
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Imagine you are a person living with Lynch Syndrome‚ this means you have an 80% chance of developing numerous kinds of cancer. Lynch syndrome is a genetic disorder caused by a group of mutations that greatly effect a person to an early and aggressive stage of colon cancer. Although this genetic mutations can cause other cancers‚ colon cancer is most common. The main cause of Lynch syndrome is miss-matched genes. This genetic disorder is passed down from parents on the MLH1 gene on the third chromosome
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