DISORDERS AND DISEASES THAT

RESULT FROM THE MALFUNCTION

OF THE CELL DURING THE CELL
CYCLE
SOME POSSIBLE FACTOR THAT COULD
CONTRIBUTE ON CHROMOSOME
ABNORMALITIES:
•• arise from errors in meiosis, usually meiosis I;
•• occur more often during egg formation (90% of
the time) than during sperm formation;
• • become more frequent as a woman ages.
DISORDERS AND DISEASES THAT RESULT FROM
THE MALFUNCTION OF THE CELL DURING THE
CELL CYCLE:

• • Incorrect DNA copy (e.g., cancer)

• • Chromosome Abnormalities - Chromosomes are
attached to string-like spindles and begin to move
to the middle of the cell (e.g., Down Syndrome,
Alzheimer’s, and Leukemia)
ANEUPLOIDY
• is the gain or loss of whole chromosomes.
• It is the most common chromosome abnormality. It
is caused by non-disjunction, the failure of
chromosomes to correctly separate:
- homologues during meiosis I or
- sister chromatids during meiosis II
MOSAICISM
Some cells may have a mutant version of a gene while
others have the normal version of the same gene.
Geneticist refers to this condition as mosaicism. The
individual may not be affected by the mutations, but if the
genotype is widespread and harmful enough, the mutation
can have a major impact. Two examples of diseases linked
to mosaicism are hemophilia, a blood-clothing disorder,
and order Marfan syndrome, which produces unusually
MARFAN SYNDROME
TURNER SYNDROME
a condition that affects only females, results when
one of the X chromosomes (sex chromosomes) is
missing or partially missing. Turner syndrome can
cause a variety of medical and developmental
problems, including short height, failure of the
ovaries to develop and heart defects.
TURNER SYNDROME
 TRISOMY 18/ EDWARDS
SYNDROME
Is a chromosomal condition associated with abnormalities in
many parts of the body. Individuals with trisomy 18 often have
slow growth before birth (intrauterine growth retardation) and a
low birth weight. Affected individuals may have heart defects
and abnormalities of other organs that develop 9 before birth.
Other features of trisomy 18 include a small, abnormally shaped
head; a small jaw and mouth; and clenched fists with overlapping
fingers.
TRISOMY 18
HUNTINGTON'S DISEASE
Is a progressive brain disorder caused by a
single defective gene on chromosome 4 — one
of the 23 human chromosomes that carry a
person's entire genetic code. This defect is
"dominant," meaning that anyone who inherits
it from a parent with Huntington's will
eventually develop the disease.
HUNTINGTON'S DISEASE