Aneuploidy

Disability Paper RING 14 CHROMOSOME SYNDROMES 14 What is RING14 syndrome? RING 14 indicates an aberration with respect to chromosome 14, which takes the form of a ring as soon as its two extremities, the long arm and the short arm, fuse together. The fusion occurs through two ruptured events, one at the extremity of the short arm and the other at the end of the…

What if you were already ten years old and just now were diagnosed with a syndrome that could have been found close to 10 years ago. Turner syndrome affects "1 in 2,500 every newborn girl," in the U.S. Turner syndrome is when a female has one working X-chromosome and one is altered or missing. The many symptoms include short stature, webbed neck and lymphedema, which is swelling of the hands and feet. To find out if you or a female you know has turner syndrome testing includes a lab test of…

Klinefelter’s syndrome (KS) is a genetic condition that can be caused when someone, usually male, has two X chromosomes and one Y chromosome giving them forty seven and not the normal forty six chromosomes. Males normally have an X chromosome and a Y chromosome and females normally have two X chromosomes. When either the sperm or the egg has a pair of sex chromosomes doesn’t succeed in separating formation, thus there is an extra chromosome causing the DNA abnormality during fertilization. This…

Klinefelter Syndrome Klinefelter Syndrome is a disorder in which there is an extra X chromosome to the standard male, 47 chromosomes rather than 46 chromosomes, genetically common to males. David Drexler is a 56 year old man with Klinefelter Syndrome or XXY for short; he was diagnosed with Klinefelter Syndrome at age 19. Mr. Drexler describes that in following with the Syndrome it'll delay puberty too. Drexler childhood was terrible. At the age 18, puberty didn't seem to happen for Drexler,…

COLUMN 2: Behind Column 1 What causes this disorder? A chromosomal mutation called translocation. Translocation is when the chromosome breaks and a portion of that chromosome reattaches to another chromosome. This chromosome that is affected by this is the 8 and 14 chromosome pair. What are the symptoms? Fever Night Sweats Swollen lymph nodes Weight loss Fever Tiredness Distortion of facial bones COLUMN 6: Back of Brochure What kind of assistance do you need? Watchful waiting…

Klinefelter Syndrome is a genetic disorder of males caused by the attainment of an extra X chromosome at conception. It occurs in one in every 500-1000 male births but the rate is up to 20 times higher in newborns. It was first discovered in 1942 by a doctor named Klinefelter who published case reports of nine men who had breast enlargement, a lack of facial and body hair, smaller than average testicles and an inability to produce sperm. There are medical researchers that realized the role of…

Aneuploidy is an abnormal number of chromosomes. When a cell is missing a chromosome or has an extra copy, genetic information becomes altered and abnormalities occur. An example of a human aneuploidy is Cat Eye Syndrome aka Schmid –Fraccaro Syndrome. Cat eye syndrome is a genetic disorder caused duplicated chromosome material of Chromosome 22. The top half and a small section of the bottom half are present three or four times in the cells of the body rather than two. Symptoms associated…

(15%) (mos 45,X[15]/46,XX[85]) among the patients of the pilot TS group. Interestingly, in this population, the MLPA detected Y material presence in two patients (table 1). Applying this 0.76 cut-off in the “TS group”, MLPA did not miss any X aneuploidies or X structural abnormalities represented by X monosomy, mosaicisms 45 X0/46 XX and 45 X0/47 XXX, isochromosome X and deletion of X chromosome.…

ones too. A widely known disease caused by cellular division going wrong is Cancer and Tumors. (1)Disrupted passage through mitosis often leads to chromosome missegregation and the production of aneuploidy progeny. Aneuploidy has long been seen as a frequent characteristic of cancer cells. Also Aneuploidy has been seen as a frequent characteristic of tumorigenesis. Mitotic spindle assembly are drugs that are frequently used to treat various types of human tumors. These lead to chronic mitotic…

There have not been many things which have taken up most of my mind in the past few years other than Genetics. Ever since I attended Dr. Lander’s lecture MIT 7.00x Introduction to Biology, I have been hooked onto the subject. He talked primarily about genetics as he is a geneticist, but attributed to other aspects of biology as well. He taught a college level course, and when I took it, I was still in high school, but regardless, I understood most of the genetic aspect of it. It feels that it is…