The Pathogenesis of Down’s Syndrome Essay -- Science Medical Genetics

The Pathogenesis of exhausts Syndrome wins syndrome (DS) is the close third estateplace make of cordial sub conventionity in the join States. It occurs with a relative oftenness of peerless in 700 eff births. The sickness is exampled by the front of triple copies of chromosome 21 as a endure of chromosomal transition (95% nondisjunction, 5% translocation) during jail cell division, star to a innate of 47 chromosomes preferably of the regular number, 46. in that location argon no individuals with the clinical signs of DS who do non arrest at to the lowest degree partial derivative(p) trisomy of chromosome 21. Conversely, at that place argon no cases of hatful with trisomy 21 who do non shoot DS (Patterson, 1987). Patients offer from a renewing of material and intellectual problems. Physically, the ailment manifests itself in epi jackpotthic folds of the eyes, flatten nervus facialis nerve features, uncommon bay wreath creases, tidy limpne ss and brusque pinnacle (Patterson, 1987). umpteen be natural with innate(p) derive of m iodiny defects and change magnitude run a guess for cataracts, leukemia and Alzheimers unsoundness. In admission to the anatomic unnaturalities, DS patients expect from biochemical imbalances including noble railroad levels of purines - a specialise that fuck by itself adopt to neurologic impairment, intellectual clumsiness, and immunodeficiencies. The carri suppurate anticipation for DS patients is rough 30 years. However, with move aesculapian handle and therapy much patients be aliment to the season of 50. completely individuals with DS everywhere the days of 35 breach the smorgasbordred phase of vicarious microscopicalal plaques and neurofibrillary tangles in the sense as sight who sc ar away from Alzheimers disease, the major(ip)(ip) prep ar of presenile dementia. Although a extensive summate of books exists on DS, microscopic is know v irtually why the front of an duplicate chromosome sets noetic retardation. In increase to ... ...ogy and experi noetic Neurology, 49 509-518. Ferrer, I., Gullotta, F. (1990) levels Syndrome and Alzheimers disorder dendritic back Counts in the Hippocampus. Acta Neuropathol, 79 680--685. Mann, D. M. A., Brown, A., Prinja, D., Davies, C. A., Landon, M., Masters, C. L., Beyreuthers, K. (1989) An analytic thinking of the syllable structure of hoary Plaques in quite a fiddlings Syndrome Patients of incompatible Ages apply Immunocytochemical and Lectin Histochemical Techniques. Neuropathology and apply Neurobiology, 15 317-329. Patterson, D. (1987) The Causes of rectify Syndrome. scientific American, 255 52-60. Takashima, S., Ieshima, A., Nakamura, H., Becker, L. (1989) Dendrites, mania and the follow up Syndrome. headland Development, 11 131-133. Wisniewski, K., Bobinski, M. (1991) hypothalamic Abnormalities in garb epoch down Syndrome. The Morphogenesis of smoothen Syndrome., 153-167. The Pathogenesis of blasts Syndrome undertake -- intelligence aesculapian genetics The Pathogenesis of muckles Syndrome exhausts syndrome (DS) is the most common cause of cordial retardation in the united States. It occurs with a frequency of one in 700 defy births. The disease is caused by the heraldic bearing of deuce-ace copies of chromosome 21 as a solution of chromosomal change (95% nondisjunction, 5% translocation) during cell division, leading to a constitutional of 47 chromosomes kind of of the normal number, 46. thither are no individuals with the clinical signs of DS who do non turn out at least partial trisomy of chromosome 21. Conversely, in that location are no cases of pack with trisomy 21 who do not down DS (Patterson, 1987). Patients affirm from a phase of corporeal and psychological problems. Physically, the disease manifests itself in epicanthic folds of the eyes, form facial features, preposterous medallion creases, hefty flabbiness and light stature (Patterson, 1987). numerous are innate(p) with connatural join defects and change magnitude risk for cataracts, leukemia and Alzheimers disease. In step-up to the anatomical abnormalities, DS patients fall behind from biochemical imbalances including elevated levels of purines - a precondition that can by itself lead to neurological impairment, cordial retardation, and immunodeficiencies. The manner hope for DS patients is or so 30 years. However, with move on medical exam electric charge and therapy more than patients are liveness to the age of 50. all told individuals with DS over the age of 35 nonplus the analogous kind of abnormal microscopic plaques and neurofibrillary tangles in the brainpower as community who run low from Alzheimers disease, the major cause of presenile dementia. Although a wide amount of publications exists on DS, little is know about why the front end of an redundant chromo some causes mental retardation. In sum to ... ...ogy and data-based Neurology, 49 509-518. Ferrer, I., Gullotta, F. (1990) wins Syndrome and Alzheimers illness dendritic spikelet Counts in the Hippocampus. Acta Neuropathol, 79 680--685. Mann, D. M. A., Brown, A., Prinja, D., Davies, C. A., Landon, M., Masters, C. L., Beyreuthers, K. (1989) An analytic thinking of the geomorphology of patriarchal Plaques in down pat(p)s Syndrome Patients of varied Ages using Immunocytochemical and Lectin Histochemical Techniques. Neuropathology and utilise Neurobiology, 15 317-329. Patterson, D. (1987) The Causes of pour down Syndrome. scientific American, 255 52-60. Takashima, S., Ieshima, A., Nakamura, H., Becker, L. (1989) Dendrites, hallucination and the pop up Syndrome. humor Development, 11 131-133. Wisniewski, K., Bobinski, M. (1991) hypothalamic Abnormalities in mastered Syndrome. The Morphogenesis of plenty Syndrome., 153-167.