GENETICDISORDERS.docVIP

GENETIC DISORDERS 1. Chromosome Disorders A. Down Syndrome Down syndrome is also called trisomy 21 because the person’s chromosome number 21 has three chromosomes joined together instead of just two. The chances of a woman having a Down syndrome child increase rapidly with age, starting at about age 40. The frequency of Down syndrome is 1/ 800 births for mothers under 40 years of age, but women over 40 are 10 times more likely to have a Down syndrome child. Characteristics of Down syndrome include a short stature; an eyelid fold; stubby fingers; a wide gap between the first and second toes; a large, fissured tongue; a round head; a palm crease (the so-called simian line), and mental retardation, which can sometimes be severe. Their personalities are usually cheerful, good-natured, and pleasant throughout their lives. Amniocentesis (removing fluid and cells from the amniotic sac surrounding the fetus) followed by karyotyping can detect a Down syndrome child. Scientists have located genes most likely responsible for the increased tendency toward leukemia, cataracts, accelerated rate of aging, and mental retardation. One day it might be possible to control the expression of that gene even before birth so that at least this symptom of Down syndrome does not appear. B. Cri du Chat Syndrome (“cat’s cry”) This is caused by one missing chromosome 5 and occurs in 1/ 50,000 live births. An infant with this syndrome has a moon face, small head, and a cry that sounds like the meow of a cat because of a malformed larynx. An older child has an eyelid fold and misshapen ears that are placed low on the head. Severe mental retardation becomes evident as the child matures. 2. Sex Chromosomal Disorders All of the cells in our body have all of our chromosomes in the nucleus except for the egg and the sperm. Each of these has all of our chromosomes in the nucleus, except there is only one of the two sex chromosomes. Since women are XX, all of her egg cells are X, but since