Université Echahid HAMMA LAKHDAR D’El-Oued

Faculté des Sciences de La Nature et de La Vie

Département de biologie cellulaire et moléculaire
Niveau : 2 éme master toxicologie Module : Génétique et pathologie humaines
Trisomy
Présenter par : DJABER Hana, KADDOURI Hadda, TAMMA Arwa, BOUAFIA Islam
Dirigé par : AZZI Manal
Abstract
Trisomy is a genetic condition that occurs when an individual has three copies of a particular chromosome instead of the usual two. This condition
is known by different names depending on the chromosome involved, such as trisomy 21, also known as Down syndrome, trisomy 13, and trisomy
18. Individuals with trisomy have unique physical and psychological characteristics, and their families may face multiple challenges in terms of
care and support. The aim of this article is to understand the causes of trisomy, its types, symptoms, how it is diagnosed and managed, and its
impact on the lives of individuals and their families. By understanding trisomy more deeply, society can provide the necessary support and
improve the quality of life for affected individuals.
Keywords; Trisomy, chromosome, Trisomy 21, Trisomy 13,Trisomy 18

Material and methode

◇International Journal Dental and Medical Sciences /2Cause of Trisomy
Research ◇A normal egg cell and normal sperm cell start with 46
Volume 3, Issue 1, Jan-Feb 2021 pp 805-810 chromosomes when a baby is conceived
www.ijdmsrjournal.com ISSN: 2582-6018 ◇The egg and sperm cells divide in half, each possessing 23
◇Google scholar chromosomes.
◇Science direct ◇After fertilization, the baby will have a complete set of 46
Introduction chromosomes.
Trisomy is a genetic condition caused by an extra copy of a ◇But sometimes, an error can occur when dividing 46
particular chromosome in an individual’s cells. This disorder chromosomes in half. Either egg or sperm cell may keep
can affect growth and development, and lead to a variety of both copies of a chromosome instead of just one copy.
physical and cognitive symptoms. ◇The baby will have three copies of chromosomes if this
The most common type of trisomy is trisomy 21, also known egg or sperm is fertilized. The cause is unknown, and
as Down syndrome. Symptoms associated with this prevention is not possible.
condition include delayed development, distinctive facial ◇Trisomy 13 occurs when the baby has three copies of
features, and chronic health problems. There are also other chromosome number 13.
types of trisomy, such as trisomy 18 (Edwards syndrome) ◇Trisomy 18 occurs when the baby has three copies of
and trisomy 13 (Patau syndrome), each of which is chromosome number 18.
associated with different health and developmental ◇Trisomy 21 occurs when the baby has three copies of
problems. chromosome number 21.
Understanding trisomy requires studying the genes and ◇This extra copy of a chromosome is then present in every
chromosomes, as well as the environmental factors that may cell in the body.
contribute to these conditions. Psychosocial support for ◇Sometimes the extra chromosome, or part of it, is attached
affected individuals and their families is also an essential to another chromosome in the egg or sperm. ◇This is called
part of managing these disorders. translocation. This is the only form of trisomy that may be
Results and discussions: inherited from a parent. Some parents may have balanced
1/Definition translocation.
Trisomy is a genetic condition caused by an alteration in the ◇This means the chromosome is attached to another
number of chromosomes where the affected person has three chromosome. However, it has no impact on their health
copies of one of the chromosomes instead of two. The The most important risk factor for trisomy conditions is
affected person possesses 47 chromosomes instead of 46. maternal age.
Women in their late 30s and 40s have a higher chance of
trisomy conditions occurring
Paternal age does not seem to be associated with the
incidence of trisomy
3/Types of Trisomy in Humans
The most common trisomy conditions include:
◇Trisomy 13 (Patau syndrome(
◇Trisomy 18 (Edward syndrome(
◇Trisomy 21 (Down syndrome)

A_ Trisomy 13 (Patau syndrome)

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Trisomy 13 is also known as Patau syndrome. Three variants of DS are as follows:
It was described in 1960 by Klaus Patau and coworkers. 1) Mosaic Down`s syndrome: Is the least common pattern of
It occurs in about 1 in 8000 to 12000 newborns. transmission of DS, occurring in 1-2% of people with DS
◇Some of the characteristics of Trisomy 13 include: and the error in cell division occurs after fertilization.
•Low birth weight Affected individuals have mixture of 47 or 46 chromosomes,
•Small skull (microcephaly) an extra chromosome is present in 47 containing group.
•An abnormal opening in the skull The greater number of normal cells in DS, the higher the
•Structural problems of the brain, such as the front of the chances of higher cognitive functions, with a possibility of
brain not divided normally (holoprosencephaly) less intellectual impairment.[9]This type of DS is not
•Eyes that are close together inherited.
•Low-set ears that have unusual shape 2 (Translocation Down syndrome
•Scalp abnormalities that resemble ulcers This type accounts for a small percentage of people with
•Cleft lip or Cleft palate Down syndrome (about 3%) and is inheritable.
•Additional toes or fingers (polydactyly) This occurs when an extra part or a whole extra chromosome
•Congenital heart disorders, such as ventricular septal defect 21 is present, but it is attached or “trans-located” to a
•Neural tube defect where the spinal cord, meninges and different chromosome rather than being a separate
blood vessels protrude through a gap in the vertebrae chromosome 21.
(myelomeningocele) 3 )Non disjunction Down`s syndrome: Trisomy 21 is most
•In boy babies, testes do not descend into the scrotum common type of DS. The error begin in either the sperm or
•In girl babies, uterus that forms in 2 branches (bicornuate the egg , with the presence of the extra chromosome before
uterus) is formed the egg and sperm unite. Trisomy 21 compromises about
•It is rare for babies to survive past the neonatal stage with 95% of all cases. Non disjunction causing Trisomy 21 is of
Patau syndrome. maternal origin in about 88% of cases and occurs more
◇Most babies born with trisomy 13 die by age 1. There are a frequently in older cells, which accounts for older women
few reports of babies with trisomy 13 surviving to their teens giving birth to offspring with Trisomy 21.
B/ Trisomy 18 (Edward syndrom)
Trisomy 18 is also known as Edward syndrome.
It occurs in about one out of every 6000 to 8000 newborns.
◇ Characteristics of Trisomy 18 include:
•Small skull (microcephaly)
•Physical irregularity of the kidneys, ureters, heart, lungs
and diaphragm
•Cleft lip or Cleft palate
•Malformations of the hands and feet such as missing
thumbs, club feet and webbing between the fingers and toes ◇Some properties of Down syndrome
(syndactyly( Down syndrome can present a variety of physical and
•Neural tube defect where the spinal cord, meninges and developmenta symptoms. Common signs and features
blood vessels protrude through a gap in the vertebrae include:
(myelomeningocele( 1. Physical Features:
•In boy babies, testes do not descend into the scrotum - A flat facial profile
•It is rare for babies to survive past the neonatal stage with - Slanted eyes, often with an epicanthic fold
Edward syndrome - A short neck
. Trisomy 21 (Down syndrome) C. - Small ears
•Trisomy 21 is also known as Down syndrome. - A protruding tongue
•Down syndrome is named after the physician J. Langdon - Short stature
•Down who first described this genetic defect in 1866. It was - A single transverse palmar crease (simian line)
formally called mongolism or mongolian idiocy. - Wider space between the first and second toes
•It affects about 1 in 800 babies. 2. Developmental Delays:
•The average lifespan of an adult with Down syndrome is 60 - Delayed physical development and growth
years, though this can vary. - Language and speech delays
Trisomy 21 is found to be affected either by senescence of - Cognitive impairment, with varying degrees of intellectual
oocytes, virus infection, radiation damage, etc. disability
Pregnant women who previously had infectious hepatitis - Challenges with motor skills (fine and gross)
may have a threefold increased risk of giving birth to 3. Health Issues:
children with Down syndrome. - Increased risk of heart defects
◇TYPES OF DOWN SYNDROME - Gastrointestinal issues (e.g., duodenal atresia)

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- Hearing problems •Autoimmune diseases (Thyroid disease, Lupus and
- Vision problems, including cataracts and refractive errors Rheumatoid arthritis)
- Thyroid problems 3•Jacob’s syndrome:
4. Behavioral Characteristics: It is a genetic condition characterized by an extra copy of the
- Friendly and social temperament Y chromosome in each of an individual’s cells.
- May exhibit stubbornness or strong-willed behavior It affects about 1 in 1,000 newborns.
- Increased likelihood of developing certain behavioral It is not inherited.
issues, like attention-deficit/hyperactivity disorder (ADHD) During the formation of sperm cells, a random chromosomal
It's important to remember that individuals with Down change may occur. An error in cell division called
syndrome vary widely in their abilities and health nondisjunction can result in sperm cells with an extra copy
conditions. Regular medical checks and early intervention of the Y chromosome.
programs can help improve development and health ◇Some of the characteristics of Jacob’s syndrome
outcomes. include:
:3Types of sex cell Trisomy in humans •Hypotonia (weak muscle tone)
It includes •Delayed motor skill development, such as with walking or
•Trisomy X (XXX) crawling
•Klinefelter syndrome (XXY) •Delayed or difficult speech
•Jacob’s syndrome (XYY) •Autism diagnosis
1. Trisomy X •Attention difficulties
It is a genetic condition where a female is born with an extra Hand trembling or involuntary muscle movements
X chromosome. •Learning disabilities
This condition occurs only in females. •Taller-than-average height
It occurs in about 1 in 1,000 female newborns. 4)Signs of Trisomy
It is not usually inherited from an affected parent. 1)During Pregnancy
The majority of cases are entirely random occurrences that •Too much amniotic fluid surrounding the baby
are caused by errors in chromosome replication and division (polyhydramnios)
during the formation of egg or sperm cells. •Only one umbilical cord artery
•Some of the characteristics of Trisomy X include: •Smaller than expected placenta
◇Taller than girls of the same age and/or taller than •The baby is small for its gestational date.
predicted by their parents’ heights •Baby is less active than expected
◇Wide-spaced eyes known as hypertelorism •Congenital defects, including cleft palate or heart
◇Vertical skin folds that cover the inner corners of the eyes irregularities, are picked up during ultrasound scans.
(known as epicanthal folds) 2)postpartum
◇Curved or bent little fingers (known as clinodactyly) •Small stature.
◇Poor muscle tone (known as hypotonia) •Round face with a flat profile.
◇Premature ovarian aging or failure •Slanted eyes.
◇Genito-urinary deformities •Cleft palate.
◇Attention deficit disorder •Organs forming or working abnormally (heart, lungs or
2_Klinefelter syndrome kidney).
It is a genetic condition where a male is born with an extra X •Developmental delays and intellectual disabilities
chromosome. 5_ Diagnosis of Trisomy condition:
It affects about 1 in 650 newborn boys. Prenatal tests that can help detect trisomy disorders include:
Klinefelter syndrome is not inherited; the addition of an ◇Ultrasound scans: Sound waves are used to create a
extra X chromosome occurs during the formation of picture.
reproductive cells (eggs or sperm) in one of an affected ◇Maternal Serum Screening: A specialized blood test. Two
person’s parents. serum screening tests are available to all women.
◇Some of the characteristics of Klinefelter syndrome Combined First Trimester Screening (CFTS)
include: Second Trimester
•Hypertension (high blood pressure) ◇Maternal Serum Screening (2TMSS)
•Type 2 diabetes ◇Amniocentesis: Between 15 and 20 weeks of pregnancy, a
•High cholesterol and fats in the blood sample of the amniotic fluid is taken and examined.
•Gynecomastia (breast growth in a male) ◇Chorionic villus sampling (CVS): Between 10 and 13
•Breast cancer weeks of pregnancy, a sample of cells from the chorion, the
•Tremors tissue that will ultimately become the placenta, is taken and
Osteoporosis (weakened bones) examined.

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◇Non-invasive prenatal testing (NIPT): After ten weeks of Références
pregnancy, a screening test that measures fetal DNA 1.9500 Euclid Avenue, Cleveland, Ohio 44195 |
circulating in the mother’s blood. 800.223.2273 | © 2024 Cleveland Clinic. All Rights
Reserved.
◇Percutaneous umbilical blood sampling (PUBS): A small
2.https://my.clevelandclinic.org/health/diseases/22912-
blood sample from a baby’s umbilical cord to test for health trisomy
conditions 3.August 3, 2023 by Dibyak Kapali
:6Treatment of Trisomy 4.Edited By: Sagar Aryal
1)Medical Care 5.2024 Microbe Notes. Made with by Sagar Aryal.
Drug therapy is not a component of the standard of care for 6.https://microbenotes.com/trisomy-types-characteristics/
trisomy. 7.WELLNESS HUB
8.Last Updated: October 21, 2023
Nasogastric and gastrostomy supplementation for feeding
9.https://www.mywellnesshub.in/blog/down-syndrome/
problems. 10.https://wecapable.com/down-syndrome-types-causes-
Orthopedic management of scoliosis may be needed. symptoms-treatment/
Cardiac management is primarily medical. Most of the 11.A Current Knowledge of “Down Syndrome: A Review
children require a diuretic and digoxin for congestive heart 12.Dr. Shilpa karkeraInternational Journal Dental and
failure. Medical Sciences Research
Neonatal intensive care (NICU) management 13.Volume 3, Issue 1, Jan-Feb 2021 pp 805-810
www.ijdmsrjournal.com ISSN: 2582-6018
2)Periodic screenings
14.A Current Knowledge of “Down Syndrome: A Review”
Periodic screenings throughout childhood and into adulthood 15.Dr. Shilpa karkera
may be advised by the healthcare professional. 16.Assistant professor Department of Anatomy &
Treatment can be given immediately for any health issues, Neuroscience Trinity School of Medicine Ratho mill,
learning difficulties, or developmental delays. Kingstown St
3)Early intervention services 17.Vincent & Grenadines
These services may start in the first few months of life or as 18.International Journal Dental and Medical Sciences
Research
soon as requirements are recognized and may include
19.Volume 3, Issue 1, Jan-Feb 2021 pp 805-810
speech, occupational, physical, or developmental therapy. www.ijdmsrjournal.com ISSN: 2582-6018
4)Educational assistance
If the child has a learning disability, educational help to
learn techniques and strategies to be successful in school and
daily life can be provided.
5)Psychosocial management
About issues of diagnosis and survival.
Parents should be informed properly about the syndrome,
including its cause, implications, and possible outcomes.
6)Assistance and support in daily functioning
If a child’s difficulties interfere with everyday functioning,
this support and assistance may include help with social
interactions, work, and daily living activities
Conclusion
In conclusion, trisomy is a complex genetic condition that
requires a deep understanding from the medical community
and families. We have reviewed the various causes and
symptoms of this condition, as well as the currently
available diagnostic and management methods. The
psychological and social impacts of trisomy emphasize the
need for ongoing support and awareness in the community.
Through ongoing research and innovations in treatment and
support, the quality of life for individuals affected by
trisomy can be improved, and they can be given better
opportunities to achieve their potential. Promoting
understanding and acceptance in the community is an
essential step towards removing stigma and providing a
supportive environment for everyone, regardless of the
genetic challenges they may face. The hope for the future
lies in scientific progress and community collaboration to
achieve a better life for people living with trisomy.