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Recommended: Achondroplasia
Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and
One can only get spinal muscular atrophy only if both of their parents had copies of a defective gene. Furthermore, if the
Description of the limb girdle muscular dystrophies [LGMD2B] Autosomal recessive Limb girdle muscular dystrophy 2B also known as dysferlinopathy, is due to the mutations in the gene dysferlin which codes for the protein involved in the membrane repair. It is ultimately mapped to the chromosome region 2p13 (C. Angelini*{, 2010)[1] which is caused by primarily, proximal weakness. (Aoki, 2004)
Type 1, also known as NS1 and Male Turner syndrome, individuals are affected with most characteristics above. One added effect is the low number of blood platelets, which means blood clotting is very uncommon in these individuals. NS2 is closely related to NS1, except for the inheritance pattern. The last type of the condition is neurofibromatosis-Noonan syndrome, but it is really just an overlap of neurofibromatosis and NS1, however, it is only a chance occurrence, because "these conditions have two distinct gene locations, with no apparent overlap" (Gale
Fibrodysplasia Ossificans Progressiva which is sometimes referred to FOP is a very rare genetic disorder in which bones grow uncontrollably to the point of causing disability (Fibrous Dysplasia). As one of the rarest and most disabling diseases, FOP causes bone to form in and over muscles, tendons, ligaments, and other connective tissues (What is FOP). Bridges of this extra bone develops across joints which causes immobility (What is FOP). These bridges also create a second skeleton that imprisons the body in bone.
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 with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog syndrome have a shawl scrotum, in which the scrotum surrounds the penis.
PIGEON TOE The medical term for the condition that causes the toes to point inward while walking is metatarsus varus or metatarsus adductus, but commonly referred to as pigeon toe or intoeing. This condition is most often seen in infants and children under the age of two, and may involve one or both feet. WHAT CAUSES PIGEON TOE IN CHILDREN?
Juvenile hyaline fibromatosis (JHF) is inherited as a fatal autosomal recessive disorder due to mutation in CMG2, or ANTXR2 gene ,The term juvenile hyaline fibromatosis was introduced by Kitano etal in 1972. The disease was previously referred to as mesenchymal dysplasia, molluscum fibrosum, systematic hyalinosis, There is disruption of the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues like skin, joints and bones leading to the development of skin papules, gingival hyperplasia, osteolytic lesions in bone and joint contractur, There is disruption of the formation of basement membranes, allowing the hyaline substance to leak through and build up in various body tissues, It is characterized by widespread deposition of hyaline material in all body tissues
The purpose of this segment of the film is to show how incentives are able to push high school students forward to pass the classes and graduate the school. In my opinion, I feel that the idea of offering incentives for school work is much more positive than negative because it does not only urge students to concentrate on their education, but it also helps them raise their money in terms of reducing their family
The allele frequency of other mutations is less than 10%; those mutations are located on exons 8, 15 and 13. Neurological features predominantly and late age of onset is observed in Slavic type, an ethnic group in Europe. Juvenile type is another ethnic group which occurs in Western Europe has onset before 16 years of age and mainly has hepatic presentation during the disease. Data from non-European countries are
CF is an autosomal recessive trait and the gene mutation is located on chromosome #7. There are several different mutations of this gene that could result in cystic fibrosis. The most common mutation is the absence of three base pairs in the DNA sequence, which is 250,000 nucleotides
achondroplasia (ACH) Achondroplasia (ACH) is a very rare (fewer than 20,000 US cases per year) yet the most common (occurring at one in every 15,000 to one in 40,000 live births) hereditary form of short-limbed dwarfism. Achondroplasia can be inherited from a parent with the disease, however most cases of ACH are because of new mutations in the FGFR3 gene. (Over 80% of people with ACH have parents who are unaffected).
For nearly century glaucoma is considered as one of the most common eye pathologies around the world, but also one of the leading causes of blindness. In fact, Glaucoma specifically in the United States, according to the book essentials of ophthalmology “ affects more than two million Americans of all age” (p. 108). Before going further in facts, a deeper look about such disease is necessary; an analysis of his origin, the causes and the solutions to the problem are indispensable. Moreover, an examination of why is African -American mostly affect by that kind of disease will be also addressed ORIGIN, DEFINITION, CAUSES Douglas H. Johnson and Richard F. Brubaker in the book “essentials of ophthalmology” asserts that “the term glaucoma (glaukos, bluish green) dates from ancient Greek time and referred to blindness from
Introduction Vision is one of our most valuable sensory modalities, it is the way that we as individuals identify our surroundings and ourselves. African American children at a young age are more susceptible to having eye problems mainly because of the fact that they are still children and still exploring their surroundings. It is estimated that around 500,000 children become blind each year but that number is expected to grow. In developing countries that statistic is even worse as around 60 percent of individuals die within a year of becoming blinded (NIH, et al, 2015). This brings about the question as to what are the true causes of these blindness’s
Cystic Fibrosis is a hereditary condition, and for a child to get the disease, they have to get one copy of the defective gene from their mother and their