Quiz 2 Discuss and give example of the chromosomal mutations.

Chromosomal Mutations and Abnormalities A chromosomal mutation is an abnormality of chromosome. It has been divided into two which are alterations in the normal number of chromosome and structure problems with the chromosomes themselves. It is happen as a consequence of problem in meiosis problem, when the sperm and ovum are formed. A chromosome pair does not separate properly or part of a chromosome break off. If these errors are involved more DNA than single genes, they usually will produce disorders with many physical and mental symptoms for such as Down Syndrome, Patau Syndrome, Edwards Syndrome, Turner Syndrome and Klinefelter Syndrome. Down Syndrome (Trisomy 21) It is the one common chromosomal abnormality that can be occurred 1 out of every 800 birth. It causes from failure of twenty first pair of chromosomes to separate during meiosis. Basically, the person with Down syndrome will inherits three of these chromosome rather than normal people with are two. It less frequent forms if there is an extra broken piece of twenty first chromosome in present. It also caused by errors in the early stages of mitosis, causing some cells but not all body cells to have the defective chromosomal make-up ( pattern of mosaic). A person who have this symptom will have mental retardation, they also will having speech problems or cannot speak properly like normal people. In addition, they have limited vocabulary and psychomotor slowly development and inability to think. Although all Down syndrome people are not same, they mostly look alike and have distinctive physical feature. They are short, stocky

build, have a flattened face, a protruding tongue, almond-shaped eyes and on unusual crease running across the palm of their hand. Patau Syndrome (trisomy 13) and Edwards Syndrome (trisomy 18) Patau syndrome is occurred 1 out of 5000 birth and it is more serious than Down syndrome. They have this symptom may have cleft palates, cleft lips, severe brain and eyes defects. Edwards syndrome results in severe multi-system defects. Usually the baby that have this syndrome can survive less than a year after birth. Klinefelters Syndrome In Klinefelter syndrome, it shows that a male has extra x chromosome (XXY). This happen only 1 out of 2000 births. Men who have this syndrome usually have small testes and barren. Besides that, they also have female sex characteristics such as enlarged breasts. They are normally intelligence, however if males have more X chromosomes, for example XXXY, XXXXY or more than that, they are mentally retarded. However, males with extra Y chromosomes (XYY) are normal and do not defect in physical although they may be taller than other males. It occurs 1 out of 2000 births. Turners Syndrome This syndrome is happen when a female only has one X chromosome (XO). It is called monosomy X and it usually happen 1 out of 5000 births. Female who has this syndrome usually has sex organ that do not mature at puberty and are usually sterile or barren. They are mostly having normal intelligence and short stature.

Cri Du Chat Syndrome It occurs in structural chromosomal abnormality. Children who have this syndrome have abnormality which is their cry sound like mewing of cat in distress, as well as systematic defects. They usually die in infancy because by a deletion of a segment of DNA in chromosome 5. There are no cures for any of the syndromes caused by chromosomal mutations and abnormalities. The risk of having a baby with chromosomal abnormalities bases on the age of the mother. If the mother is 20 year-old or below, the risk of having a syndrome baby is 1 out of 1900 births, 35 year-old mother is 1 out of 300 births and 1 out of 30 births from the mother 45 year-old or above. We can conclude that these abnormalities not only causes by failure during meiosis, but also causing by the age of the mother.

References 1.Laura E.Berk. (1998). Development through the lifespan (second edition). United States of America: Allyn and Bacon. 2. Helen Bee. (1994). Lifespan Development . United States of America: Collins College Publisher. 3. John s. Dacey, John F. Travers (2002). Human development across lifespan. America, New York. McGraw hill companies. 4. www.bookrags.com 5. http://www.biology-online.org/2/7_mutations.h