Trisomy 21. Group 1 Stem 03
Trisomy 21. Group 1 Stem 03
Trisomy 21. Group 1 Stem 03
Kagawaran ng Edukasyon
Rehiyon III
Lungsod ng Balanga, Bataan
SUBMITTED BY:
SUBMITTED TO:
GIOVANNI D. DAVID
MARCH 2018
INTRODUCTION
chromosome specifically the chromosome 21. Year 1866, John Langdon Down first
described the illness, and in 1959, it was clearly stated that chromosome 21 was the cause
of trisomy.
often differ from those of their "normal" counterparts, and it has been reported that children
with Down's syndrome typically have difficulties interacting with peers (Guralnick,
Flattened face, almond shaped eyes that slant up, a short neck, small ears, a tongue
that sticks out of the mouth, tiny white spots on the iris of the eye, small hand and feet, a
single line across the palm, poor muscle tone and shorter in height as children and adults,
with these physical features, one can simply identify an individual who suffers from Down
syndrome.
The 2% of the world’s population have Down syndrome. It is the most common
genetic condition in the United States of America. Here in the Philippines, according to
Manila Times (2014), one in every 800 babies born has Down syndrome or around 1,875
cases a year in the Philippines in a population of 1.5-million live births. The annual
mortality rate per 100,000 people from Down syndrome in Philippines has increased by
people with Down syndrome have trisomy 21. With this type of Down syndrome, there
three copies of chromosome 21 in each cell of the body. The second type is the
present but is translocated or attached to a different chromosome. The last one is the Mosaic
Down syndrome wherein only 2% of the population who has Down syndrome can be
affected. In this type, other cells have 3 copies of chromosome while the other cells have
only 2 copies.
Trisomy 21 is not contagious yet people are making ridicule to those who suffer
from this condition. Laughing about their looks and physical features and sometimes even
bullying them. There’s no one with Trisomy 21 who can live ordinary like normal are. That
is why we need to learn more about Down syndrome, they are not just people who have
extra copies of chromosome. They are people with disorder which leads to even more
complicated complications.
PEDIGREE ANALYSIS
MOTHER FATHER
SIDE SIDE
The main participant in this study was RR (not his real name), a 10-year old male
with Down's syndrome, who is currently a resident in Brgy. Cataning City of Balanga,
The majority of Down syndrome cases are not hereditary. Usually the heredity of
the genes only occur during Translocation Down Syndrome Cases. The inherited cases
only occur when one of the parents is a carrier. In this case, the carrier will have 45
chromosomes instead of 46 but they will have all the genetic material of a person with 46
chromosomes.
In RR’s case, both of his parents were not carriers and the patient was diagnosed
with trisomy 21 after birth. The doctor also said that the case in which the patient had
trisomy 21 may be due to one of the ancestors of the family that may have carried the
affected chromosome.
Apart from this we also got the other dominant diseases in the family that may have
We also put in consideration the age of the mother during pregnancy. There is a 25%
chance that a child may have the disorder if the mother’s age is greater than 42. In RR’s
case, his mother was already in her early 40’s when she got pregnant.
The mother’s side of the patient has a mother (which is the grandmother of the
patient) who does not have diabetes or homozygous recessive. While the father
Because the mother of the patient has diabetes and the father is not affected, it is
possible that all 3 of her children may also be affected. Due to the Diabetes of the mother
it may have increased the risk of the condition. In this case the patient with Trisomy 21
also has a congenital heart disease in which case 40-50% of babies diagnosed with Down
The patient has AV Canal defect wherein there's a hole between the heart's
chambers and problems with the valves that regulate blood flow in the heart.
MECHANISM OF THE DISEASE (PATHOGENESIS)
STEM CELL 46
6
NEW STEM CELL
46 46 SPERMATOGONIUM
MITOSIS
6 6
PRIMARY SPERMATOCYTE 46
FIRST 6
MEIOSIS MEIOTIC DIVISION
23 23
SECONDARY SPERMATOCYTE
SECOND
MEIOTIC DIVISION
SPERMATIDS 23 23 23 23
23 23 23 23
SPERMATOZOA (MATURE)
Normal Mitosis and Meiosis in Female:
STEM CELL 46
6
OOGONIUM
46 46 NEW STEM CELL
MITOSIS
6 6
PRIMARY OOCYTE 46
6 FIRST
MEIOTIC DIVISION
MEIOSIS
23 23
POLAR BODY SECONDARY
OOCYTE
SECOND
MEIOTIC DIVISION
23 23 23
POLAR BODIES
23
MATURE OVUM
95% of all Down Syndrome comes from Trisomy 21 or free trisomy. This is where
non-typical cellular division occurs in either the egg or sperm, in which 90% of cases
originates from the egg (Lashley, 2006). The figure below shows the non-disjunction in
NON-DISJUNCTION
IN MEIOSIS I OF
SPERMATOGENESIS STEM CELL 46
MITOSIS 6
NEW STEM CELL
46 46 SPERMATOGONIUM
6 6
PRIMARY SPERMATOCYTE 46
FIRST 6
MEIOTIC DIVISION
MEIOSIS
22 24
SECONDARY SPERMATOCYTE
SECOND
MEIOTIC DIVISION
SPERMATIDS 22 22 24 24
22 22 24 24
SPERMATOZOA (MATURE)
SPERM)
NON-DISJUNCTION
IN MEIOSIS II OF
SPERMATOGENESIS
STEM CELL 46
MITOSIS 6
NEW STEM CELL
46 46 SPERMATOGONIUM
6 6
PRIMARY SPERMATOCYTE 46
FIRST 6
MEIOTIC DIVISION
MEIOSIS
23 23
SECONDARY SPERMATOCYTE
SECOND
MEIOTIC DIVISION
SPERMATIDS 22 24 22 24
22 24 22 24
SPERMATOZOA (MATURE)
SPERM)
NON-DISJUNCTION
IN MEIOSIS I OF
OOGENESIS
STEM CELL 46
6
OOGONIUM
46 46 NEW STEM CELL
MITOSIS
6 6
PRIMARY OOCYTE 46
6 FIRST
MEIOTIC DIVISION
MEIOSIS
22 24
POLAR BODY SECONDARY
OOCYTE
SECOND
MEIOTIC DIVISION
22 22 24
POLAR BODIES
24
MATURE OVUM
NON-DISJUNCTION
IN MEIOSIS I OF
OOGENESIS
STEM CELL 46
6
OOGONIUM
46 46 NEW STEM CELL
MITOSIS
6 6
PRIMARY OOCYTE 46
6 FIRST
MEIOTIC DIVISION
MEIOSIS
24 22
POLAR BODY SECONDARY
OOCYTE
SECOND
MEIOTIC DIVISION
24 24 22
POLAR BODIES
22
MATURE OVUM
NON-DISJUNCTION
IN MEIOSIS II OF
OOGENESIS
STEM CELL 46
6
OOGONIUM
46 46 NEW STEM CELL
MITOSIS
6 6
PRIMARY OOCYTE 46
6 FIRST
MEIOTIC DIVISION
MEIOSIS
23 23
POLAR BODY SECONDARY
OOCYTE
SECOND
MEIOTIC DIVISION
22 24 22
POLAR BODIES
24
MATURE OVUM
NON-DISJUNCTION
IN MEIOSIS II OF
OOGENESIS
STEM CELL 46
6
OOGONIUM
46 46 NEW STEM CELL
MITOSIS
6 6
PRIMARY OOCYTE 46
6 FIRST
MEIOTIC DIVISION
MEIOSIS
23 23
POLAR BODY SECONDARY
OOCYTE
SECOND
MEIOTIC DIVISION
24 22 24
POLAR BODIES
22
MATURE OVUM
FINDINGS
Down Syndrome, also known by the karyotype 47,XX,+21 for females and
critical portion of chromosome 21. The term Down syndrome comes from Dr. Langdon
Down, the doctor who first described the collection of physical symptoms in 1866. It was
not until 1959 that the cause of Down syndrome (the presence of an extra #21
and weak muscle tone (hypotonia) in infancy. All affected individuals experience
expectancy among adults with Down syndrome is about 60 years, though average
lifespan varies.
Trisomy 21 is the most common genetic cause of mental retardation and one of
the few aneuploidies compatible with post-natal survival. The vast majority of meiotic
errors leading to the trisomic condition occur in the eggs. Besides mental retardation,
present in every individual with Down Syndrome (DS) , trisomy 21 is associated with
more than 80 clinical traits including congenital heart disease, duodenal stenosis or
backflow of acidic stomach contents into the esophagus, and celiac disease which is an
intolerance of a wheat protein called gluten and early onset Alzheimer’s disease.
Most cases of Down syndrome result from trisomy 21, which means each cell in
the body has three copies of chromosome 21, instead of the usual two copies.Less
another chromosome during the formation of reproductive cells (eggs and sperm) in a
Affected people have two normal copies of chromosome 21 plus extra material
genetic material from chromosome 21. Affected individuals with this genetic change are
said to have Translocation Down syndrome. People with Translocation Down syndrome
can inherit the condition from an unaffected parent. The parent carries a rearrangement of
translocation, so these chromosomal changes usually do not cause any health problems.
However, as this translocation is passed to the next generation, it can become unbalanced
extra genetic material from chromosome 21, which causes Down syndrome.
A very small percentage of people with Down syndrome have an extra copy of
chromosome 21 in only some of the body's cells. In these people, the condition is called
Mosaic Down syndrome. Like trisomy 21, mosaic Down syndrome is not inherited. It
occurs as a random event during cell division early in fetal development. As a result,
some of the body's cells have the usual two copies of chromosome 21, and other cells
trisomy 21, the chromosomal abnormality occurs as a random event during the formation
of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it
occasionally occurs in sperm cells. An error in cell division called nondisjunction which
egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical
reproductive cells contributes to the genetic makeup of a child, the child will have an
About half of babies with Down syndrome have heart defects. Some defects are
minor and may be treated with medications, while others may require surgery. All babies
who specializes in heart diseases of children. Babies with Down syndrome should also
have an echocardiogram. This is a procedure that evaluates the structure and function of
the heart by using sound waves recorded on an electronic sensor that produce a moving
picture of the heart and heart valves. This exam and test should be done in the first two
Some babies with Down syndrome are born with intestinal malformations that
require surgery. Children with Down syndrome are at increased risk for visual
impairment. Common visual problems include crossed eyes, near- or farsightedness, and
cataracts. Most visual problems can be improved with glasses, surgery, or other
treatments. A pediatric ophthalmologist should be consulted within the first year of life.
This is a doctor who specializes in comprehensive eye care and provides examinations,
defect, or both. All children with Down syndrome should have regular vision and hearing
examinations so any problems can be treated before they hinder development of language
Children with Down syndrome are at increased risk for thyroid problems and
leukemia. They also tend to have many colds, as well as bronchitis and pneumonia.
Children with the said disorder should receive regular medical care, including childhood
Medicine Checklist" that outlines which check-ups and medical tests are recommended at
various ages.
Atrioventricular Canal Defect. Atrioventricular canal defect allows extra blood to flow to
the lungs. The extra blood forces the heart to overwork, causing the heart muscle to
A child with Down syndrome may have eyes that slant upward and small ears that
may fold over slightly at the top. The child's mouth may be small, making the tongue
appear large. The child's nose also may be small, with a flattened nasal bridge. Some
babies with Down syndrome have a short neck and small hands with short fingers. Rather
than having three "creases" in the palm of the hand, a child with Down syndrome usually
has one single crease that goes straight across the palm, and a second crease that curves
down by the thumb. The child or adult with Down syndrome is often short and has
unusual looseness of the joints. Most children with Down syndrome will have some, but
not all, of these features. Common physical signs of Down syndrome includes:
1)Decreased or poor muscle tone 2)Short neck with excess skin at the back of the neck
3)Flattened facial profile and nose 4) Small head, ears, and mouth 5)Upward slanting
eyes, often with a skin fold that comes out from the upper eyelid and covers the inner
corner of the eye 6) White spots on the colored part of the eye (called Brushfield spots)
7)Wide, short hands with short fingers 8)A single, deep, crease across the palm of the
hand 9)A deep groove between the first and second toes
slower than development of children without Down syndrome. For example, because of
poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit,
stand, and walk. Despite these delays, children with Down syndrome can learn to
participate in physical exercise activities like other children. It may take children with
Down syndrome longer than other children to reach developmental milestones, but they
It is proven that children with Down Syndrome can still go to school. It is because
special programs beginning in preschool years are now available which helps children
with Down Syndrome develop skills as fully as possible. Along with benefiting from
early intervention and special education, many children can be integrated into the regular
classroom, to some extent. Since there are special work programs designed for adults
with Down syndrome, many can hold regular jobs. Today, an increasing number of adults
with Down syndrome live semi-independently in community group homes. They take
rare exceptions, most men with Down syndrome cannot father a child. In any pregnancy,
a woman with Down syndrome has a 50/50 chance of conceiving a child with Down
There is no cure for Down syndrome. Doctors are not certain how to prevent the
chromosomal error that causes Down syndrome. To date, there is no reason to believe
that a parent could have done anything to cause or prevent the birth of a baby with Down
syndrome. However, a recent study suggests that some women who have had a baby with
Down syndrome had an abnormality in how their body metabolizes, or processes, the B
vitamin folic acid. If confirmed, this finding may provide yet another reason why all
women who might become pregnant should take a daily multivitamin containing 400
micrograms of folic acid. This has been shown to reduce the risk for certain birth defects
Some people claim that various high-dose vitamins given to children with Down
syndrome will improve the mental performance and lessen the degree of intellectual
disability. To date, however, no medical studies have proved that this actually works. It is
important for new families to talk with their physician, other families, and national Down
syndrome support agencies to learn what to expect with Down syndrome and to learn
about things that may be helpful in raising a child with Down syndrome. However,
children with Down syndrome would benefit from early medical assistance and
may benefit from speech therapy, physical therapy and occupational therapy. They may
with an extra chromosome. This condition can be inherited, if one of the parents has a
family history with Down syndrome then the possibility of having a child with this
condition is one out three children. While having both parents who have trisomy 21 in their
genes have a high possibility of developing one to two children with Down syndrome. This
condition is not contagious yet can be extremely harmful if there is an existing gene from
In our participant’s case, the age of the mother had a big factor. For, if none of the
parents have a history with Down syndrome, then the age of the mother can be a reason.
Having a child with the age of 35 and above have a higher risk of having a Down syndrome
or even other disorders. Because of the older age, one’s pregnancy can be difficult and can
individual’s genetic material. This prevents them to separate, making an extra copies of
chromosome 21 and resulting into a Down syndrome condition. Trisomy 21 often and may
Disability, Autism, Alzheimer’s Disease, different Heart Disease and many more that may
Atrioventricular Canal Defect. Atrioventricular canal defect allows extra blood to flow to
the lungs. The extra blood forces the heart to overwork, causing the heart muscle to
Untreated, Atrioventricular Canal Defect can cause heart failure and high blood
pressure in the lungs. Doctors generally recommend surgery during the first year of life to
close the hole in the heart and to reconstruct the valves (MayoClinic, 1998-2018).
Although Trisomy 21 or Down syndrome has no cure, there are some therapy and
treatment for the complications. People with Down syndrome may look different from a
normal person. They will need a special love, care and support, they may have an extra
in Brgy. Cataning City of Balanga, Bataan. We recommend the future researchers to study
the most occurring side effect in an individual having Trisomy 21 in Bataan. It can be a
heart disease, hearing problems, intestinal problems, celiac disease, eye problems, thyroid
We also recommend the future researchers to study the most effective treatment or
On the very outset of this case study, we would like to extend our sincere and
heartfelt obligations towards all the personages who have helped us in this endeavor.
Without their active guidance, help, cooperation and encouragement, we would not have
We are extremely thankful and pay our gratitude to the father of Merynn Ularte for
The information shared by Dr.Joseph Quan is deeply appreciated and useful during
the study.
We also acknowledge with a deep sense of reverence, our gratitude towards the
At last but not least gratitude goes to our parents who has always supported
Any omission in this brief acknowledgement does not mean lack of gratitude and
21 and
Subsets of
Motor Neurons and in the Neuromuscular Junction: Possible Role in Down Syndrome
PLoS
One. 8(1):e54285
Profiles in
Disease. J
Chapman RS, Hesketh LJ. (2000) Behavioral phenotype of individuals with Down
syndrome.
Neurosci.:844 -58.
syndrome
Disorder JAMA
303(24):2525-2526
Epstein C. Down Syndrome1(1995) In: Scriver CR, Beaudet AL Sly WS, Valle D, eds.
The
metabolic and molecular bases of inherited disease. New York: McGraw-Hill 749-94.
Farriols Danés C (2012). Specific aspects of ageing in Down’s syndrome. Rev Med Int
Sindr
Down. 16(1):3-10
Fillat C, Bofill-De Ros X., Santos M., Martín ED, Andreu N, Villanueva E, d'Amico
D, Dierssen
pathogenesis by
S,
Mobley W (2005) Report on the 'Expert Workshop on the Biology of Chromosome 21:
towards
D.C.
Thurman R,
C,
Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki
A,
(2014)
508
(7496):345-50
Lott IT (2012) Neurological phenotypes for Down syndrome across the life span. Prog
Brain
Makary A, Testa R, Einfeld SL, Tonge BJ, Mohr C, Gray KM (2014) The association
between
behavioural and emotional problems and age in adults with Down syndrome without
dementia:
Examining a wide spectrum of behavioural and emotional problems. Res Dev Disabil.
35(8):1868-77
Neri G, Opitz JM. (2009) Down syndrome: Comments and reflections on the 50th
anniversary
Down's
adults with
Down syndrome: Effects on the individual, carers and services. AJMR, 105, 455-465.
Patterson D, Costa AC (2005) Down syndrome and genetics - a case of linked histories.
Nat
Rachidi M, Lopes C. (2007) Mental retardation in Down syndrome: from gene dosage
69
Roizen NJ, Patterson D. (2003) Down's syndrome. Lancet 361(9365):1281-9
Ronan A,Fagan K, Christie L, Conroy J, Nowak NJ, Turner G.(2007) Familial 4.3 Mb
duplication of 21q22 sheds new light on the Down syndrome critical region. J Med
Genet.44(7):448-51
Developmental
https://www.mayoclinic.org/diseases-conditions/atrioventricular-canal-defect/symptoms-
causes/syc-20361492
https://www.ndss.org/about-down-syndrome/down-syndrome-facts/
CDC. (n.d.). Down Syndrome. Retrieved March 11, 2018, from
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
Down Syndrome (Trisomy 21). (n.d.). Retrieved February 18, 2018, from
http://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy-21-90-
P02356
https://ghr.nlm.nih.gov/condition/down-syndrome
Down Syndrome: Trisomy 21. (n.d.). Retrieved February 18, 2018, from
http://americanpregnancy.org/birth-defects/down-syndrome/
Sommer, C., & Henrique, S. F. (2007-2008). Trisomy 21 and Down syndrome - A short
https://pdfs.semanticscholar.org/d14b/b335ec8e7319839916ae80ae9802e512df05.pdf
Down Syndrome (Trisomy 21). (n.d.). Retrieved February 18, 2018, from
http://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy-21-90-
P02356
Down Right Cute. (n.d.). Retrieved March 11, 2018, from
https://downrightcute.com/2017/03/pathophysiology/