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A normal human usually has 23 pairs of chromosomes, with 2 sex chromosomes that determine sex
and 44 autosomal chromosomes which are responsible for growth and function.
Trisomy is a genetic condition caused by an alteration in the number of chromosomes where the
affected person has three copies of one of the chromosomes instead of two. The affected person
possesses 47 chromosomes instead of 46.
Trisomy occurs in at least 4% of all clinically recognized pregnancies and frequently results in a
variety of birth defects in children, including intellectual impairments and delayed development.
Despite the possibility of a full-term birth, trisomy most frequently results in a miscarriage in the
first three months of pregnancy.
Cause of Trisomy
A normal egg cell and normal sperm cell start out with 46 chromosomes when a baby is conceived.
The egg and sperm cells then divide in half each possessing 23 chromosomes each.
After fertilization, the baby will have a complete set of 46 chromosomes.
But sometimes an error can occur during the division of 46 chromosomes in half. Either egg or
sperm cell may keep both copies of chromosome instead of just 1 copy.
The baby will have 3 copies of chromosome if this egg or sperm is fertilized. The cause is unknown
and prevention is not possible.
Trisomy 13 occurs when the baby has 3 copies of chromosome number 13.
Trisomy 18 occurs when the baby has 3 copies of chromosome number 18.
Trisomy 21 occurs when the baby has 3 copies of chromosome number 21.
This extra copy of chromosome is then present in every cell in the body.
Sometimes the extra chromosome, or part of it, is attached to another chromosome in the egg or
sperm. This is called a translocation. This is the only form of trisomy that may be inherited from a
parent. Some parents may have balanced translocation.
This means the chromosome is attached to another chromosome. However, it has no impact on their
own health.
Types of Trisomy in Humans
The most common trisomy conditions include:
1. Trisomy 13 (Patau syndrome)
2. Trisomy 18 (Edward syndrome)
3. Trisomy 21 (Down syndrome)
Trisomy 13
Trisomy 13 is also known as Patau syndrome.
It was described in 1960 by Klaus Patau and coworkers.
It occurs in about 1 in 8000 to 12000 newborns.
It is rare for babies to survive past the neonatal stage with Patau syndrome.
Most babies born with trisomy 13 die by age 1. There are a few reports of babies with trisomy 13
surviving to their teens.
Trisomy 18
Trisomy 18 is also known Edward syndrome.
It occurs in about one out of every 6000 to 8000 newborns.
It is rare for babies to survive past the neonatal stage with Edward syndrome.
Trisomy 21
Trisomy 21 is also known Down syndrome.
Down syndrome is named after the physician J. Langdon Down who first described this genetic
defect in 1866. It was formally called mongolism or mongolian idiocy.
It affects about 1 in 800 babies.
The average lifespan of an adult with Down syndrome is 60 years, though this can vary.
Trisomy 21 is found to be affected either by senescence of oocytes, virus infection, radiation
damage, etc.
Pregnant women who previously had infectious hepatitis may have a threefold increased risk of
giving birth to children with Down syndrome.
Adults with Down syndrome are commonly smaller than adults who do not have Down syndrome.
Klinefelter Syndrome
It is a genetic condition where a male is born with an extra X chromosome.
It affects about 1 in 650 newborn boys.
Klinefelter syndrome is not inherited; the addition of an extra X chromosome occurs during the
formation of reproductive cells (eggs or sperm) in one of an affected person's parents.
Treatment of Trisomy
1. Medical Care
Drug therapy currently is not a component of the standard of care for trisomy.
Nasogastric and gastrostomy supplementation for feeding problems.
Orthopedic management of scoliosis may be needed
Cardiac management is primarily medical. Most of the children require a diuretic and digoxin
for congestive heart failure.
Neonatal intensive care (NICU) management
2. Periodic screenings
Periodic screenings throughout childhood and into adulthood may be advised by the healthcare
professional.
Treatment can be given right away if there are any health issues, learning difficulties, or
developmental delays.
5. Psychosocial management
About issues of diagnosis and survival.
Parents should be informed properly about the syndrome, including its cause, implications, and
possible outcomes.
Trisomy in Non-humans
Trisomy-22 has been reported in chimpanzees which shows Down syndrome-like phenotypic
features.
Trisomy-21 has been reported in the gorilla
References
1. Better Health Channel. (2021). Trisomy Disorder. Accessed from:
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/trisomy-disorders
6. Hassold, T., Hunt, P. A., & Sherman, S. (1993). Trisomy in humans: incidence, origin and
etiology. Current opinion in genetics & development, 3(3), 398–403.
https://doi.org/10.1016/0959-437x(93)90111-2
13. Murdoch Children's Research Institute. (2022). Maternal Serum Screening. Accessed from:
https://www.vcgs.org.au/tests/maternal-serum-screening#:~:text=seen%20by
%20ultrasound).-,Second%20Trimester%20Maternal%20Serum%20Screening
%20(2TMSS),gestation%20to%20give%20a%20result.
14. Stanford Medicine. (2022). Trisomy 13 and Trisomy 18 in Children. Accessed from:
https://www.stanfordchildrens.org/en/topic/default?id=trisomy-18-and-13-90-P02419
15. Verma P.S. and Agarwal V.K. (2005). Trisomy. In Cell Biology, Genetics, Molecular Biology,
Evolution and Ecology. Multi-color Edition. S. Chand & Company Ltd. Ram nagar, New Delhi,
pg 196-197