Kintas, Zyra Yhricka A.

BFS-2A

EXPLAIN AND DISCUSS THE FOLLOWING Genetic Disorders:

1. Down Syndrome (Trisomy 21)
Most Down syndrome sufferers have an extra copy of chromosome 21. Regarding the genetics of
Down syndrome and the correlation between various genotypes and traits, various hypotheses
have been put forth. One of them is a gene dosage imbalance, in which the amount or quantity of
Hsa21 genes is increased, leading to an increase in gene expansion. Following a thorough
examination of several investigations, it became clear that numerous critical areas or essential
genes, rather than a single critical region gene, are more likely to be involved in the phenomena
of trisomy 21.
2. Trisomy 18
A genetic disorder in infants called Edwards syndrome (Trisomy 18) results in severe impairment.
A second copy of chromosome 18 is what causes it, and kids born with it typically do not live
much longer than a week. Instead of the typical 2 copies, children with Edwards syndrome have 3
copies of all or a portion of chromosome 18. This may result from an error during the
development of the egg or sperm, or it could happen while the baby is growing inside the womb.
When a baby has Edwards syndrome, it either miscarries, is stillborn, or is born severely
physically malformed. The majority of babies with Edwards syndrome pass away within a week
of birth, and it is extremely rare for them to survive their first year of life.
3. Trisomy 13
The presence of an extra copy of chromosome 13 in part or all of the body's cells results in
Patau's syndrome, a severe and uncommon genetic condition. Another name for it is trisomy 13.
The genes you inherit from your parents are carried by 23 pairs of chromosomes that are typically
found in each cell. But chromosome 13 is present in three rather than two copies in infants with
Patau's syndrome. This gravely impairs the course of normal development and frequently leads to
miscarriage, stillbirth, or the infant passing away soon after birth.
4. Turner Syndrome
An X chromosome losing all or part of it (monosomy) results in Turner syndrome, an uncommon
chromosomal disease. Turner syndrome is incredibly varied and can vary greatly from person to
person. Female patients may have a wide range of symptoms affecting numerous organ systems.
Short stature and early ovarian failure, which can prevent a person from reaching puberty, are
common symptoms. The majority of Turner syndrome sufferers are infertile. There are numerous
more symptoms that can manifest, such as abnormalities of the eyes, hearing, skeleton, heart, and
kidneys. Although intelligence is often normal, those who are impacted may have certain learning
impairments. Turner syndrome may be identified before birth, soon after delivery, or in the early
years of life.
5. Klinefelter Syndrome
 When a boy is born with an extra copy of the X chromosome, a genetic disorder known as
Klinefelter syndrome develops. Klinefelter syndrome is a male-specific genetic disorder that
frequently isn't discovered until adulthood. Klinefelter syndrome may negatively impact testicular
growth, resulting in testicles that are smaller than usual, which can limit testosterone production.
In addition, the disease may result in less body and facial hair, less muscle mass, and increased
breast tissue.
6. Fragile X Syndrome
FXS is a hereditary condition known as fragile X syndrome. A gene termed Fragile X Messenger
Ribonucleoprotein 1 (FMR1) alterations lead to FXS. A protein termed FMRP that is required for
brain development is typically produced by FMR1. FXS patients cannot produce this protein.
Although the FMR1 gene has changed in people with fragile X diseases, they typically still
produce part of the protein. Males and females are both impacted by FXS. However, compared to
men, women frequently exhibit milder symptoms.
7. Triple X syndrome
It is a hereditary condition in which every cell in a female bears an extra copy of the X
chromosome. Triple X syndrome, which only affects women, is a genetic condition but is almost
never inherited. One reason triple X syndrome is believed to be underdiagnosed is that many
females with the ailment don't exhibit any symptoms or indicators of the disorder. Tall stature is
the most typical characteristic, however other women can display a wide range in severity of
symptoms.
8. Cri-du-chat syndrome
When a portion of chromosome number 5 is missing, a series of symptoms known as "cri du chat
syndrome" develop. The name of the syndrome is derived from the baby's high-pitched, feline-
like cry. The majority of occurrences are thought to happen when the egg or sperm are
developing. There are a few instances where a parent transmits their child a different, rearranged
form of the chromosome.
9. Prader-Willi syndrome
A genetic disease called Prader-Willi syndrome (PWS) affects about one in every 15,000
newborns. PWS affects people of all racial and ethnic backgrounds equally, and it equally affects
men and women. The most frequent genetic contributor to the potentially fatal childhood obesity
is known to be PWS. Small hands and feet, abnormal growth and body composition, hypotonia
(weak muscles) at birth, insatiable hunger, extreme obesity, and intellectual disability were among
the common traits listed in the initial report.
10. Duchenne muscular dystrophy
The most prevalent type of muscular dystrophy, a hereditary illness that gradually weakens the
body's muscles, is called Duchenne muscular dystrophy. Toddlers with Duchenne MD may have
big calves and begin walking later than typical. Before age 3 to 5, when muscle weakness makes
it difficult to walk, climb stairs, and engage in other activities, the disease is frequently
undetected.
Reference:
Akhtar, F. (2023, August 8). Down Syndrome. StatPearls - NCBI Bookshelf.
https://www.ncbi.nlm.nih.gov/books/NBK526016/
Cri du chat syndrome. (n.d.). Mount Sinai Health System.
https://www.mountsinai.org/health-library/diseases-conditions/cri-du-chat-syndrome
Duchenne Muscular Dystrophy. (n.d.). Physiopedia. https://www.physio-
pedia.com/Duchenne_Muscular_Dystrophy
Edwards syndrome (Trisomy 18). (n.d.).
https://www.healthdirect.gov.au/edwards-syndrome-trisomy-18
Klinefelter syndrome - Symptoms and causes - Mayo Clinic. (2019, September 21).
Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/
symptoms-causes/syc-20353949
Masters, M. (2023, May 30). What Is Triple X Syndrome? Symptoms, Causes,
Diagnosis, Treatment, and Prevention. EverydayHealth.com.
https://www.everydayhealth.com/triple-x-syndrome/guide/
Strong, T.V. (n.d.). What is Prader-Willi Syndrome. https://www.fpwr.org/what-is-
prader-willi-Syndrome-definition
Turner Syndrome - Symptoms, Causes, Treatment | NORD. (2023, July 18).
National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/turner-
syndrome/
What is Fragile X Syndrome (FXS)? | CDC. (2022, June 3). Centers for Disease
Control and Prevention. https://www.cdc.gov/ncbddd/fxs/facts.html#:~:text=Learn
%20more,do%20not%20make%20this%20protein.
Website, N. (2023, July 21). Patau’s syndrome. nhs.uk.
https://www.nhs.uk/conditions/pataus-syndrome/