Down Syndrome occurs from trisomy 21,

which is what happens when each cell in

the body has three copies of each piece of
DNA instead of two (24 chromosomes
instead of 23). Having extra copies of genes
is known to disrupt normal development,
causing those with Down Syndrome to have
a weakened immune system and be more
prone to health issues related to this
condition. The older a woman gets, the
higher the chance is that she will have a
child with Down Syndrome.
Age Chance of Down
Syndrome
30 1/1,000
35 1/400
42 60%
49 1/12
Video/Article/Activities-
http://www.parents.com/health/down-
syndrome/booster-activities-for-kids-with-down-
syndrome/

Fragile X Syndrome is associated with the
expansion of the CGG trineucleotide. The
repeating of this trineucleotide affects the
Fragile X mental retardation I (FMRI) which is
the gene on the X chromosome. In saying
so, this allows for boys to have a 1/4,000
chance and girls a 1/8,000 chance of
receiving Fragile X Syndrome. Referring
back to the genetic change in Fragile X,
the mutation of the genes results in a failure
to produce FMRP, which is crucial for
normal child development.


Video-
http://www.youtube.com/watch?v=9_PEW
6ocSNs

Cystic Fibrosis is a recessive gene that passes
down the mutated gene, but without
showing signs of symptoms of the condition.
This is a common disease within the
caucasian population in the United States. In
Cystic Fibrosis, the CFTR gene, which
provides instruction particles for making a
channel that transports negatively charged
chloride ions into and out of cells, is
mutated. This causes those who have the
disease to have multiple respiratory,
digestive, and reproductive issues.
Video-
http://www.youtube.com/watch?v=az6aH
7nLKRI

Tay-Sachs is very rare in the general
population. The cause of this disease is a
mutation in the HEXA gene. This condition is
inherited in an autosomal recessive pattern
(meaning both copies have the
mutation).The mutations in the HEXA gene
disrupts the beta-hexosaminidase A, which
prevents the enzyme from breaking gown
GM2 ganglioside. This causes issues on the
neurons in the brain and spinal chord,
impairing the function of lysosomal enzymes
and buildup of GM2-galioside.
Video-
http://www.youtube.com/watch?v=SeoPF
74QSms



Sickle Cell Disease is an inherited autosomal
disease that follows a recessive pattern and
requires that both parents must carry 1
copy of the mutated gene. This is the most
common blood disorder in the US (70k-
80k)and it affects millions worldwide.
Mutations in the HBB (which provides
instructions for the production of beta-
globin) is caused by this disease. In people
with this disease, at least one of the
betaglobin subunits in hemoglobin is
replaced with hemoglobin S.
Interactive activity-
http://www.youtube.com/watch?v=9UpwV1tdxcs