Amanda Labrado

Biology 110
Linton Bowie
Write up No. 2
10/28/09
Chromosomal Diseases
The average human being has forty-six pairs of chromosomes, or twenty-three from
their mother and twenty-three from their father; twenty two, from both the mother
and the father,are autosomes while the remainder is the sex chromosome, X or Y.
The number forty-six is significant to the number of chromosomes because when a
cell is given more or less than forty-six chromosomes an embryo will be produced
that may develop into an abnormal baby and/or be miscarried. Also significant to
the chromosome is its shape and structure; A chromosome can sometimes be
deleted, duplicated, inverted, misplaced or exchanged with part of another
chromosome resulting in growth, development and health defects. Some of the
most common chromosomal diseases are Down syndrome, Edward Syndrome,
Turner Syndrome, and Klinefelter syndrome. Down syndrome is caused by an extra
chromosome 21 so that in total there are three. Those born with Down syndrome
has similar facial features such as a flattened nose arch, almond shaped eyes, light
colored spot in eyes, a small mouth, small ears and a somewhat rounder face than
those of the same ethnicity. People with Down syndrome suffer from slight to
severe retardation. Like Down syndrome, Edward’s syndrome is caused by an extra
chromosome, that is, in addition to chromosome 18. Edward’s syndrome is more
common at 1 to every 3,000 births compared to 1 in every 800 for Down syndrome.
Only 5% of babies born with Edward’s live past one week but some continue living
until they are teenagers, but with many disabilities. People with Edward’s syndrome
often have similar characteristics such as a small, oddly shaped head, a small jaw, a
small mouth, low-set ears, and clenched fists with overlapping fingers. Both Down
Syndrome and Edward’s syndrome can occur in either sex, male or female. Two
common chromosomal conditions that can only occur in one gender are Turner
Syndrome and Klinefelter’s Syndrome. Turner Syndrome appears in 1 out of every
2500 births and only occurs in females. Girls with Turner syndrome lack a second X
chromosome; Symptoms of Turner syndrome are a “webbed” neck, a shield like
chest area, short stature, and sometimes underdeveloped or delayed sex organs;
Some women with Turner’s are incapable of reproducing. The majority of women
with Turner’s Syndrome live full, healthy, lives. Equivalent to a Turner’s syndrome
for men, Klinefelter’s syndrome is when a male has two X chromosomes instead of
one making them XXY. Klinefelter’s appears in 1 of every 500 births but many boys
born with this do not have symptoms. Men with Klinefelter’s syndrome typically are
taller than average, have wide hips, are quiet in their disposition, have less facial
and body hair, are less muscular, may have larger breasts, and have a lower energy
level than regular men and boys. Furthermore, 95% of Klinefelter’s are infertile
because they do not produce much sperm and are more susceptible to certain
diseases such as breast cancer, and vein diseases.

Works Cited
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