Philadelphia chromosome

and partners, the cri du chat syndrome is caused by a specific alteration of genetic material: the loss of a part of the filiform structures in the nucleus of the cell that carry the genetic material (one of the arms of one of the chromosomes: the short arm of chromosome 5). This genetic modification is usually occur spontaneously after fertilization in cell division of the egg, that is to say, as a spontaneous mutation. The cri du chat…

Cellular manufacturing is an application of Group Technology in which machines or processes have been aggregated into cells, each of which is dedicated to production of a part or product family or limited group of families. Parts with similar processing requirements are identified; these are then placed into logical groups called part families and the equipment requirements for each part family are subsequently determined. A part family is a collection of parts which are similar either because…

2. Genetic diseases The prevalence of genetic disease in Nigeria, as one of the various congenital disorders, can be discussed in two folds: chromosomal and single genetic etiologies. Genetic diseases of chromosomal etiology Of the chromosomal etiology, Down syndrome was reported to have an incidence of 1 in every 865 live birth, 19 and Turner’s syndrome of 1 in every 2745 live female birth in Nigeria as at 1982, 20 no other reliable study have been done on genetic diseases of chromosomal…

Birth, first talks about how our life begins. Every human being starts with a single cell called zygote. (Berger, pg48). All living things consists of cells that has molecules of DNA. DNA molecules are called chromosomes. Then, this chromosomes contain genes. Each one of us has 46 chromosomes that are arranged into 23 pairs. Except for our reproductive cell called gamete. There are two different types of gametes, for a man it is called sperm and for a woman it is called ovum (Berger pg48). The…

Achondroplasia Achondroplasia is a form of short-limbed dwarfism. GENE: The FGFR3 gene makes a protein called fibroblast growth factor receptor 3. The function of the protein from the gene is involved in transforming cartilage into bone. FGFR3 is the only gene known to be related with achondroplasia. There is also a receptor called tyrosine kinase. It negatively regulates the growth plate activity and stright bone growth. All people who have only a single copy of the normal FGFR3 gene and a…

that are received through an individual having an abnormality in DNA”(Genetic Science Learning Center, 2014). These irregularities range from single-base mutations on just one chromosome all the way up to receiving or removing an entire chromosome. In the case of neurofibromatosis, it is caused by an anomaly in a single chromosome. Neurofibromatosis, also known as NF, has two distinct types called NF1 and NF2. “NF1 occurs in approximately 1 in 4,000 births, whereas NF2 occurs about 1 in 40,000…

“without cartilage formation.” The name comes from the complications in ossification caused by the genetic defect. The gene responsible for the defect was discovered in 1994 by Dr. John Wasmuth, at the University of California at Irvine. Located on chromosome 4, achondroplasia is the most common type of dwarfism, caused by a mutation of the FGFR3 gene. The defect is usually random, where the parents do not have achondroplasia. It affects around 1 in 25000 people. An ultrasound can help detect…

Variations/Selection/ Evolution into the human body. Question 26: Variations in a population is the product of sexual recombination, crossing over during meiosis or by mutation. Sexual recombination is the result of getting different copies of chromosomes between the father and mother during meiosis. Crossing over can produce new combinations of genes that will be expressed in the daughter cells. Mutation can produce random variation in a population that can produce a small or big change in a…

experience cognitive delays, but the intellectual disability is usually mild to moderate. You get Down Syndrome by having a extra set of chromosomes. The female has 2 sets of chromosomes and the male has 1 set of chromosomes. Before the offspring is created the female parent has to get rid of 1 set of chromosomes, but since she didn’t get rid of the extra set of chromosomes the offspring is…

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 long arm, which usually leads to a partial loss of the informative genetic materil of chromosome 14. The chromosomal abnormality can…