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Saturday, December 15, 2018

'Chromosomal Disorder\r'

'1. Turner syndrome: (X instead of XX or XY). In Turner syndrome, female sexual characteristics ar present entirely underdeveloped. People with Turner syndrome practic eithery have a short stature, low hairline, kinky middle features and bone education and a â€Å"caved-in” appearance to the chest. explanation: Turner syndrome (TS) occurs when one of the two X chromosomes in females is either missing or incomplete. The near common symptoms are short stature and gonadal dysgenesis, which can cause incomplete sexual development and ovarian failure and infertility.\r\nAs of right now, in that respect is no known cause of TS. 2. Klinefelters syndrome (XXY): Description men with Klinefelter syndrome are ordinarily sterile, and tend to have womb-to-tomb build ups and legs and to be taller than their peers. Boys with the syndrome are often incertain and quiet, and have a higher incidence of delivery delay and dyslexia. During puberty, without testosterone treatment, s ome of them whitethorn develop gynecomastia. 3. Patau Syndrome: besides called D-Syndrome or trisomy-13.\r\nSymptoms are somewhat similar to those of trisomy-18, exclusively they do not have the characteristic make shape Description: Trisomy 13, also called Patau syndrome, is a roughness in which an individual has third copies of familial stuff and nonsense from chromosome 13, rather than two. It can occur in ternion forms: Trisomy 13, which has a third chromosome 13 in all cells; Trisomy 13 mosaicism, which has a third chromosome 13 in some cells; and partial Trisomy, which has the presence of part of an bare(a) chromosome 13 in the cells.\r\n4. round off syndrome: Description usually is caused by an extra copy of chromosome 21 (trisomy 21). Characteristics acknowledge decreased muscle tone, stockier build, asymmetrical skull, slanting look and kooky to moderate cordial retardation. 5. Edwards syndrome: Description which is the second-most-common trisomy; Down syndrome is the most common. It is a trisomy of chromosome 18. Symptoms include mental and labour retardation and numerous congenital anomalies causing just health problems. Ninety percent die in infancy; however, those that live past their first natal day usually are quite healthy thereafter.\r\n nigh symptoms include clenched hands, feet with a rounded bottom, mental deficiency, underdeveloped fingernails, and an unusual shaped chest. 6. Cat eye syndrome: Description: For individuals with cat eye syndrome, the short arm (known as 22p) and a small orbit of the abundant arm (22q) of chromosome 22 are present three or four times, rather than twice. Characteristic features of the turnover include mild growth delays before birth, mild mental deficiency, and malformations of the skill and facial region, the magnetic core, the kidneys, and/or the anal region.\r\n7. Williams Syndrome: Description: Williams syndrome is caused by a deletion of genetic material from portions of the long arm o f chromosome 7, a region that consists of more than 25 genes. Researchers have identified a few of the specific genes related to Williams syndrome, but the kin between most of the genes in the deleted region and the symptoms of Williams syndrome is unflurried unknown. The most common symptoms of Williams syndrome are mental retardation, heart defects, and unusual facial features ,small upturned nose, wide mouth, serious lips, small chin, widely spaced teeth . Angelman syndrome: Description: Angelman syndrome (AS) is an example of genomic imprinting, where the deletion or inactivation of genes on the maternally inherited chromosome 15 causes the paternal copy, which may be of normal sequence, to be imprinted and silenced. AS is characterized by intellectual and developmental delays, sleep disturbances, seizures, and jerky movements, but also frequent laughter or grin and usually have a happy fashion\r\n'

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