BSC1005-Disc5

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This is a graded discussion: 30 points possible

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Discussion 5: Genetic Disorders 16 16

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Directions: For this discussion, identify a genetic disorder that is unique to

your classmates and the disorders covered in your textbook. For the

genetic disorder you choose, indicate the name of the disorder, what is

thought to cause the disorder, the effects of the disorder, list known

treatments (if any) that you identify in your research, and give a general

percent of the population that is effected by this disorder (if this

information is known).

Submission: After you have posted your initial post, read and respond to

two or more of your classmates' posts. Be sure to make substantive and

constructive comments (just posting “nice post” doesn’t count). For

example, add something from your own experience, something you’ve read

or seen. If the situation calls for it, feel free to state an opinion, but be sure

to state any points with which you agree and/or those with which you

disagree, as well as your reasons for agreeing or disagreeing.

Grading: This discussion is worth 30 points and will be graded using

the Discussion Rubric. Pease use it as a guide toward successful completion

of this assignment. 

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6/24/23, 2:05 AM Page 1 of 18

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Claudia Huerta (https://canvas.fscj.edu/courses/71848/users/137133)

Sunday

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Name of the disorder: Turner syndrome

Cause of the disorder: Turner syndrome is caused by a missing or partially missing X chromosome. It occurs in females when they have only one X chromosome instead of the usual two (45,X karyotype instead of the typical 46,XX karyotype).

Effects of the disorder: Turner syndrome can have various effects on those who have it. Common features include short stature, gonadal dysgenesis (underdeveloped or nonfunctional ovaries), and a range of physical abnormalities, such as a webbed neck, low-set ears, and a broad chest. Turner syndrome can also be associated with several health issues, including heart defects, kidney abnormalities, and thyroid problems. Individuals with Turner syndrome may also face learning disabilities and social adjustment difficulties, although their intelligence is typically within the normal range.

Known treatments: There is no cure for Turner syndrome; however, there are treatments that can help manage its symptoms and associated health issues. Growth hormone therapy can help increase height, and estrogen replacement therapy can help promote the development of secondary sexual

6/24/23, 2:05 AM Page 2 of 18

therapy can help promote the development of secondary sexual characteristics. Regular monitoring and treatment of associated health issues, such as heart defects, kidney abnormalities, and thyroid problems, are also essential for improving the quality of life of individuals with Turner syndrome. Additionally, psychological support and educational interventions can help address learning disabilities and social adjustment difficulties.

General percent of the population affected: Turner syndrome affects about 1 in every 2,500 live female births. This means that approximately 0.04% of the female population is affected by this disorder. However, it is important to note that the actual prevalence might be higher, as many cases of Turner syndrome are not diagnosed due to mild or non-specific symptoms.

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Beyonce Miranda-Gomez (She/Her) (https://canvas.fscj.edu/courses/71848/users/129249)

Monday

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Hello Claudia! I appreciate your very well written and organized post.

I don't know if this is common sense and/or happens with all genetic

disorders, but both of our disorders are affiliated with an extra

chromosome! It made me wonder, what is the difference between the

extra chromosome in a Down Syndrome baby and a person with

Turner Syndrome. While reading your post, I clearly got my answer,

the cause is fairly similar, but the effect is very different! I enjoyed

your post!

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Corbin Miller (https://canvas.fscj.edu/courses/71848/users/54253)

6/24/23, 2:05 AM Page 3 of 18

Thursday

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Hello Claudia,

I have actually never heard about this disease. I have never met

someone personally with this syndrome but it seems like it varies in

severity from what you are stating. I wonder how many could be

affected by this but may not know.

Great discussion!

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Jomer Ibarreta (https://canvas.fscj.edu/courses/71848/users/26650)

Yesterday

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6/24/23, 2:05 AM Page 4 of 18

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Great discussion, Claudia. I would like to add that Turner Syndrome is

a chromosomal problem caused when one of the two X chromosomes

is missing completely or partially. No one knows what causes Turner

Syndrome, but some cases are linked to a change in the way the X

chromosome looks. Some of the most common signs of Turner

Syndrome are short height, a webbed neck, and failing ovaries.

Treatment for Turner Syndrome is based on the age and health of the

person who has it. Growth hormone therapy, thyroid hormone therapy,

and estrogen therapy are all common types of medicine. The outlook

for someone with Turner Syndrome varies on how bad their symptoms

are and what kind of treatment they get.

References:

Cox, J. L., & Ehmke, D. A. (2020). Turner Syndrome: A Clinical

Overview. Pediatrics, 145(Suppl 3), S259-S267. doi:

10.1542/peds.2019-3975S

 

Gonzalez, S. G., & Roberson, M. S. (2016). Turner Syndrome: Diagnosis

and Management. American Family Physician, 93(3), 180-185.

 

Hanna, C. E. (2017). Turner Syndrome. In StatPearls [Internet].

StatPearls Publishing.

 

6/24/23, 2:05 AM Page 5 of 18

(https://canvas.fscj.edu/courses/71848/users/129249)

Beyonce Miranda-Gomez (She/Her) (https://canvas.fscj.edu/courses/71848/users/129249)

Monday

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6/24/23, 2:05 AM Page 6 of 18

The genetic disorder I choose to write about is called Down Syndrome.

I have actually wondered greatly about this disorder, and I was excited to

do some research within this course. The cause of Down Syndrome is

Trisomy. Trisomy is the occurrence of a person having an extra

chromosome. This chromosome is one that has specifics genes within

that activate the disorder. This extra chromosome, chromosome 21,

changes a variety of factors. It can change the physical appearance and

brain development. Because of the change in brain development, this

also causes mental and physical challenges within itself. Unfortunately,

there is no 'cure' for this disorder, it is a lifelong disorder and condition.

However, there are treatments and services available. I would think of it

as a form of therapy for theses children, babies, teenagers, and adults. It

generally helps them in the growth department of their disorder. Helping

them with speech, emotional management, and physical therapy. There

are also services that helps them embrace their unique talents and skills!

According to a website called, "Center for Disease Control and

Prevention," it states, "Down syndrome remains the most common

chromosomal condition diagnosed in the United States. Each year, about

6,000 babies born in the United States have Down syndrome. This

means that Down syndrome occurs in about 1 in every 700 babies."

Generally I always wondered what occurs genetically with people with

Down Syndrome to affect not only their mental development but also

their physical development. Now, I am surprised to know that it is about

one chromosome. One extra chromosome can change the whole

genetical, physical, and mental  development within a person. 

 

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Robin Patterson

6/24/23, 2:05 AM Page 7 of 18

(https://canvas.fscj.edu/courses/71848/users/148704)

Wednesday

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Hi Beyonce,

I am also fascinated that what seems like such a minor change such

as the extra chromosome could cause such issues like down

syndrome. Our genetic make up can be devastated by just a little

addition or deletion. It seems so far that there are no cures for these

genetic disorders, only treatments for the effects. I hope one day

science is able to reverse these genetic disorders. Who knows, they

probably already have or are working on it and need more testing.

(https://canvas.fscj.edu/courses/71848/users/54253)

Corbin Miller (https://canvas.fscj.edu/courses/71848/users/54253)

Thursday

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Hello Beyonce, 

This was a great one to do as it is one of the more common disorders

that is heard about. I knew it had something to do with an extra

chromosome but did not know that it was a specific chromosome and

that it is caused by trisomy. 

Great discussion!

(https://canvas.fscj.edu/courses/71848/users/26650)

Jomer Ibarreta (https://canvas.fscj.edu/courses/71848/users/26650)

6/24/23, 2:05 AM Page 8 of 18

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Yesterday

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Thank you for the information, Beyoncé. Indeed, Down syndrome is a

genetic disorder that happens when a person has an extra copy of

chromosome 21. Instead of two, chromosome 21 has three, hence

called, Trisomy 21. Intellectual disability, delays in development,

unique physical features, and a higher chance of some medical

conditions are all common signs of Down syndrome. Early

intervention and specialized treatments can help handle the different

symptoms, but the prognosis depends on the medical and

developmental needs of the person. Therapies like physical,

occupational, speech, and educational help may be part of the

treatment. People with Down syndrome can live healthy, useful lives if

they get the right medical care and help.

References:

1. National Institute of Health. “Down Syndrome.” U.S. National

Library of Medicine, National Institutes of Health, 25 Feb. 2021,

www.ncbi.nlm.nih.gov/books/NBK1468/.

2. Centers for Disease Control and Prevention. “Down Syndrome.”

CDC, Centers for Disease Control and Prevention, 10 Dec. 2020,

www.cdc.gov/ncbddd/birthdefects/downsyndrome.html.

3. Mayo Clinic. “Down Syndrome.” Mayo Clinic, Mayo Foundation for

Medical Education and Research, 17 Aug. 2020,

www.mayoclinic.org/diseases-conditions/down-

syndrome/symptoms-causes/syc-20355977.

6/24/23, 2:05 AM Page 9 of 18

(https://canvas.fscj.edu/courses/71848/users/13719)Tiara Taylor (https://canvas.fscj.edu/courses/71848/users/13719)

Monday

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The genetic disorder I selected was Progeria. This is a rare genetic

disorder that causes children to age prematurely. Children with progeria

typically have normal development in the womb, but they begin to age

rapidly after birth. They have features that are typical of old age, such as

wrinkled skin, hair loss, and osteoporosis.  

Progeria is caused by a mutation in the LMNA gene, which is responsible

for producing a protein called lamin A. The mutation in the LMNA gene

causes lamin A to become defective, which leads to the premature aging

of cells and tissues. 

Effects of progeria can be devastating. Children with progeria often

experience a number of health problems such as heart disease, stroke,

and cancer. In most cases, they do not live past the age of 13. There is no

cure for progeria, but there are treatments that can help to improve the

quality of life for children with the disorder. These treatments include

physical therapy, medication, and surgery. 

The incidence of progeria is estimated to be 1 in 8 million births.

Progeria is a rare disorder, and there is no known way to prevent it. 

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Robin Patterson (https://canvas.fscj.edu/courses/71848/users/148704)

Tuesday

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6/24/23, 2:05 AM Page 10 of 18

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Hi Tiara,

I have never heard of Progeria, but I am thankful after reading your

post that it is a rare disorder. Proteins are something we have

learned about in recent classwork and lectures. It is hard to wrap my

mind around a mutation causing this much devastation. DNA is so

very vital, and I hope that continued research can offer answers to

rare disorders such as this.

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Bonni Haber (She/Her) (https://canvas.fscj.edu/courses/71848/users/107427)

Yesterday

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Tiara, wonderful choice and great description and over view of this

rare disorder. While reading your post I thought just how fragile our

genetic make up is and truly what a miracle it is to have so many

perfect human births, we really should be more thankful! Great post

and thank you for highlighting something so rare, it helps to bring

awareness! 

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Robin Patterson (https://canvas.fscj.edu/courses/71848/users/148704)

6/24/23, 2:05 AM Page 11 of 18

Tuesday

Edited by Robin Patterson (https://canvas.fscj.edu/courses/71848/users/148704) on Jun 20 at 6:30pm

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My 2-year-old grandson was diagnosed with both Beckwith-Wiedemann

and Jacobsen Syndromes at birth. To bring awareness for him and others,

I will focus this discussion on Beckwith-Wiedemann Syndrome (BWS). It

occurs by an imprinting deletion in the 11th chromosome. Some deletions

can be minor while others are severe. It causes higher than average

birthweight, increased weight after birth, large tongues, enlargement of

internal organs and abdominal wall defects. In addition, it can cause

facial deformities and an increased risk of childhood cancer most often

in the liver and kidneys. This is not an all-inclusive list by any means. It is

said to be the most common overgrowth and cancer predisposition

disorder. It is now considered a spectrum disorder because it varies

greatly from patient to patient. BWS usually occurs sporadically 80% of

the time. Only in 5 to 10 percent of the cases is it due to family history. 

There is no known cure for BWS but there is a laundry list of treatments

depending on the symptoms and the severity of the deletion. Every year

approximately 11,000 children around the world are born with BWS. 

 

Beckwith-Wiedemann Syndrome (BWS): Symptoms & Treatment

(clevelandclinic.org)

(https://my.clevelandclinic.org/health/diseases/21993-beckwith-

wiedemann-syndrome)  

 

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Bonni Haber (She/Her)

6/24/23, 2:05 AM Page 12 of 18

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(https://canvas.fscj.edu/courses/71848/users/107427)

Yesterday

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Robin, Let me start by saying I hope your grandson is doing well and

how wonderful for him to have such a supportive grandmother! I had

never heard of this condition and it's insightful to learn as much as

we can, helps us be more compassionate and understanding of

others. 11,000 children a year sounds like a lot, hopefully they can

continue advancing medicine and offer more treatments and maybe a

cure one day. 

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Corbin Miller (https://canvas.fscj.edu/courses/71848/users/54253)

Thursday

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The name of the disorder I have picked is Cri-du-chat syndrome. The

name of this syndrome comes from a French phrase "cry of the cat." It is

thought to be from the rearrangements of chromosomes specifically the

known rearrangement is the deletion of most of the small arm of

chromosome 5. These deformations happen to affect the nervous system

that than are shown through physical features such as flattened bridge of

the nose, low birth weight, and abnormalities of the palate. This

syndrome is also connected with one who is born with it to have a high-

pitched cry (hence the name). Children born with Cri-du-chat live through

normal life expectancies but will have significant limitations physically as

6/24/23, 2:05 AM Page 13 of 18

normal life expectancies but will have significant limitations physically as

well as mental development. Although this deletion of the short arm of

chromosome 5 is not directly correlated with inheritance.  There is no

known medicinal treatment to this syndrome but treatment can be in the

form of physiotherapy as well as speech/language therapy. It is

estimated that 1 in every 20,000 to 50,000 newborns are affected by

Cri-du-chat syndrome.

Department of Health & Human Services. (2001, February 12). Cri Du

Chat syndrome. Better Health Channel.

https://www.betterhealth.vic.gov.au/health/conditionsandtreatment

s/cri-du-chat-syndrome

(https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/cri-

du-chat-syndrome)

Gandhi, D. A. (2018, March 29). Cri Du Chat Syndrome: Causes and

treatment. Patient.info. https://patient.info/childrens-health/cri-du-

chat-syndrome-

leaflet#:~:text=There%20is%20no%20specific%20treatment%20f

or%20cri%20du%20chat%20syndrome,of%20social%20and%20in

tellectual%20ability (https://patient.info/childrens-health/cri-du-chat-

syndrome-

leaflet#:~:text=There%20is%20no%20specific%20treatment%20for%20cri

%20du%20chat%20syndrome,of%20social%20and%20intellectual%20abil

ity) .

professional, C. C. medical. (n.d.). Cri-du-chat (cat’s cry) syndrome:

Symptoms & causes. Cleveland Clinic.

https://my.clevelandclinic.org/health/diseases/24084-cri-du-chat-

syndrome#:~:text=Your%20child%20will%20have%20noteworthy,t

heir%20first%20month%20of%20life

(https://my.clevelandclinic.org/health/diseases/24084-cri-du-chat-

syndrome#:~:text=Your%20child%20will%20have%20noteworthy,their%20

first%20month%20of%20life) .

6/24/23, 2:05 AM Page 14 of 18

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first%20month%20of%20life) .

U.S. National Library of Medicine. (n.d.). Cri-du-chat syndrome:

Medlineplus genetics. MedlinePlus.

https://medlineplus.gov/genetics/condition/cri-du-chat-

syndrome/#frequency

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Bonni Haber (She/Her) (https://canvas.fscj.edu/courses/71848/users/107427)

Yesterday

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6/24/23, 2:05 AM Page 15 of 18

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Name of Genetic Disorder: Albinism 

Cause of the disorder: The body's inability to make enough, if any,

melanin. Melanin is a broad term for a group of natural pigments found in

most organisms. The melanin pigments are produced in a specialized

group of cells known as melanocytes. There are five basic types of

melanin: eumelanin, pheomelanin, neuromelanin, allomelanin and

pyomelanin. There are three different kinds of Albinism which all vary

depending on the family of gene that is affected. 

Effects of the disorder: Albinism is usually seen in a person's skin, hair

and eye color, but sometimes differences are slight. People with albinism

are also sensitive to the effects of the sun, so they're at higher risk of

getting skin cancer. 

Known treatment: There is no treatment for this genetic disorder

however, those affected can do things like wear sunscreen and protective

clothing to better protect themselves. Animals that are affected by this

disorder are more effected by sun exposure if not in an environment

conducive to mud, where there would be prone to slather themselves with

such as protection from the sun. 

Population effected: About one in 70 people carry a recessive gene for

albinism, and about one in 20,000 humans are albinos. At least 300

species of animals in North America have albino individuals.  The

condition is most commonly seen in birds, reptiles and amphibians, but

more rarely seen in mammals and other taxa.

 

 

6/24/23, 2:05 AM Page 16 of 18

(https://canvas.fscj.edu/courses/71848/users/26650)

Jomer Ibarreta (https://canvas.fscj.edu/courses/71848/users/26650)

Yesterday

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Klinefelter syndrome (XXY)

 

The chromosomal abnormality known as Klinefelter syndrome is

characterized by the presence of an additional X chromosome in a man,

leading to a XXY genotype. According to Gutierrez-Gutierrez et al. (2018),

it is one of the most prevalent sex chromosomal abnormalities found in

boys and occurs in roughly one in five hundred to one in one thousand

live male births. According to Gutiérrez-Gutiérrez et al. (2018), the cause

is not completely known, although it is believed to be the outcome of a

random occurrence that occurs during the development of reproductive

cells. Klinefelter syndrome can be identified by its manifestations, which

include gynecomastia, tiny testicles, and a tall stature; however, these

characteristics may not be present until adolescence (Stroh et al., 2018).

According to Stroth et al. (2018), treatment consists of hormone

replacement therapy, speech and language therapy, as well as

educational support. According to Gutiérrez-Gutiérrez et al. (2018), the

prognosis for those who have Klinefelter syndrome is generally favorable,

with normal life expectancy and enhanced quality of life with the

application of suitable treatment.

References:

 

6/24/23, 2:05 AM Page 17 of 18

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Gutiérrez-Gutiérrez, B., De La Cruz-Munoz, N., Diaz-Lopez, B., & Martinez-

Frías, M. L. (2018). Klinefelter syndrome: A clinical, cytogenetic, and

molecular review. Molecular Genetics & Genomic Medicine, 6(6), 1033–

1050. https://doi.org/10.1002/mgg3.381

 

Stroh, C., Schoenfeld, A. J., & Ross, J. L. (2018). Klinefelter Syndrome.

Pediatrics in Review, 39(2), 78–89. https://doi.org/10.1542/pir.2017-0145

6/24/23, 2:05 AM Page 18 of 18