NAME: Russel Jay C.

Indoy Section: 10-Florentino

DOWN SYNDROME

Down Syndrome is a genetic condition where people are born with an extra
chromosome. Most people have 23 pairs of chromosomes within each cell of their body,
for a total of 46. A person diagnosed with Down Syndrome has an extra copy of
chromosome 21, which means their cells contain 47 total chromosomes instead of 46.
Down syndrome affects kids' ability to learn in different ways, and most have mild to
moderate intellectual disability. Kids can and do learn, and they can develop skills
throughout their lives. Physical signs of Down syndrome are usually present at birth and
become more apparent as your baby grows. They can include: A flat nose bridge,
Slanted eyes that point upward, A short neck, Small ears, hands and feet, Weak muscle
tone at birth, Small pinky finger that points inward towards the thumb, One crease in
the palm of their hand (palmar crease), Shorter-than-average height. There are three
types of Down syndrome with different causes, including: Trisomy 21, Translocation,
Mosaicism.

COLOR BLINDNESS

Color blindness can happen when one or more of the color cone cells are absent, not
working, or detect a different color than normal. Severe color blindness occurs when all
three cone cells are absent. Mild color blindness happens when all three cone cells are
present but one cone cell does not work right. It detects a different color than normal.
The symptoms of color blindness can range from mild to severe. Many people have such
mild symptoms that they are unaware that they have a color deficiency. The symptoms
include: Trouble seeing colors and the brightness of colors in the usual way, Inability to
tell the difference between shades of the same or similar colors. This happens most with
red and green, or blue and yellow. The three different types of color blindness are
monochromatism, dichromatism, and anomalous trichromatism. A color vision
deficiency can impair a person's ability to read and interpret various diagrams and
graphics such as maps, pie charts and slides used in presentations. Color deficiency can
also interfere with the interpretation of advertisements and graphics on websites.
EDWARDS SYNDROME

Trisomy 18, also called 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. Babies
with Edwards syndrome may have: Problems gaining weight and growing, Low muscle
tone, Unusual-looking face and head, Learning disabilities, Unusual hands and feet with
overlapping fingers and webbed toes, Heart problems, Kidney problems. Because
children diagnosed with Edwards syndrome (trisomy 18) have underdeveloped bodies,
the side effects of the condition have serious and often life-threatening consequences,
including: Congenital heart disease and kidney disease (present at birth). Breathing
abnormalities (respiratory failure). Most cases of trisomy 18 result from having three
copies of chromosome 18 in each cell in the body instead of the usual two copies. The
extra genetic material disrupts the normal course of development, causing the
characteristic features of trisomy 18. There are 2 types of Edward’s Syndrome: Full
Edwards Syndrome and Mosaic Edwards Syndrome.

REFLECTION
My research on Disorders like Edwards Syndrome, Down Syndrome, and Color Blindness
has given me a thorough understanding of human genetics and how it affects both
individuals and society. Examining the genetic processes, phenotypic expressions, and
difficulties experienced by people with these disorders has improved my understanding
of science and compassion. Additionally, it has highlighted how critical it is to promote
accessibility, inclusivity, and all-encompassing healthcare in order to serve people who
are impacted by genetic illnesses. All in all, my study experience has changed the way I
think about activism, inclusivity, and compassion in the genetics and medical fields.

REFERENCES:
https://my.clevelandclinic.org/health/diseases/17818-down-syndrome

https://kidshealth.org/en/parents/down-syndrome.html#:~:text=Toddlers%20and
%20older%20kids%20may,develop%20skills%20throughout%20their%20lives.

https://www.aao.org/eye-health/diseases/what-is-color-blindness#:~:text=Color
%20Blindness%20Symptoms&text=The%20symptoms%20include%3A,green%2C%20or
%20blue%20and%20yellow.

https://www.news-medical.net/health/Implications-of-Color-Blindness.aspx#:~:text=A
%20color%20vision%20deficiency%20can,advertisements%20and%20graphics%20on
%20websites.

https://medlineplus.gov/genetics/condition/trisomy-18/#causes

https://www.healthdirect.gov.au/edwards-syndrome-trisomy-18#symptoms