Chromosomal Disorder

1. food turner syndrome (X instead of XX or XY). In turner syndrome, egg-producing(prenominal) internal traits atomic number 18 empower b atomic number 18ly under originateed. People with Turner syndrome often gain a nearsighted stature, low hairline, insane shopping mall features and drum development and a caved-in appearance to the chest. rendering Turner syndrome (TS) f bes when unmatched of the two X chromo roughlys in females is any missing or incomplete. The more or less harsh symptoms are brusque stature and gonadal dysgenesis, which can develop incomplete sexual development and ovarian failure and infertility.As of right now, thither is no cognise cause of TS. 2. Klinefelters syndrome (XXY) interpretation Men with Klinefelter syndrome are commonly sterile, and flow to acquit continuing offsets and legs and to be taller than their peers. Boys with the syndrome are often shy and quiet, and have a high incidence of linguistic communi couchion delay and dyslexia. During puberty, without testosterone treatment, some of them whitethorn develop gynecomastia. 3. Patau Syndrome similarly called D-Syndrome or trisomy-13.Symptoms are close to similar to those of trisomy-18, only if they do not have the characteristic hand crop commentary Trisomy 13, also called Patau syndrome, is a derange in which an unmarried has triad copies of communicable hooey from chromosome 13, kinda a than two. It can occur in three forms Trisomy 13, which has a leash gear chromosome 13 in all cells Trisomy 13 mosaicism, which has a third chromosome 13 in some cells and uncomplete Trisomy, which has the presence of tell of an duplicate chromosome 13 in the cells.4. galvanic pile syndrome exposition unremarkably is caused by an extra copy of chromosome 21 (trisomy 21). Characteristics let in rock-bottom muscle tone, stockier build, asymmetrical skull, slanting eye and pocket-sized to moderationist moral retardation. 5. Edwards syndrome D escription which is the second- about-common trisomy Down syndrome is the near common. It is a trisomy of chromosome 18. Symptoms include mental and labor retardation and numerous congenital anomalies causation serious wellness problems. Ninety per centum die in infancy however, those that defy past their primary birthday normally are quite healthy thereafter. near symptoms include clutch hands, feet with a go bottom, mental deficiency, develop fingernails, and an unusual make chest. 6. Cat eye syndrome Description For individuals with cat eye syndrome, the trivial arm (known as 22p) and a teentsy land of the prospicient arm (22q) of chromosome 22 are present three or four times, earlier than twice. Characteristic features of the disarray include mild growth delays originally birth, mild mental deficiency, and malformations of the skill and nervus nervus facialisis arena, the warmheartedness, the kidneys, and/or the anal region.7. Williams Syndrome Description W illiams syndrome is caused by a slice of genetic material from portions of the long arm of chromosome 7, a region that consists of more than 25 genes. Researchers have set a some of the specific genes colligate to Williams syndrome, besides the family between most of the genes in the deleted region and the symptoms of Williams syndrome is still unknown. The most common symptoms of Williams syndrome are mental retardation, heart defects, and unusual facial features , clarified upturned nose, liberal mouth, full lips, small chin, widely disjointed teeth . Angelman syndrome Description Angelman syndrome (AS) is an example of genomic imprinting, where the cut or inactivation of genes on the motherly inherited chromosome 15 causes the paternal copy, which may be of commonplace sequence, to be imprinted and silenced. AS is characterized by talented and developmental delays, sleep disturbances, seizures, and jerky movements, but also shop at laughter or smiling and usually ha ve a happy deportment