Chromosome Syndromes

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BY: Brandon
and Kellen
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The odds of having a child with a chromosome
disorder/syndrome is 1 in 160 live births.
(.00625%)
Approximately half of these births will end up being a
miscarriage.
Trisomy is a condition in which an extra copy of a
chromosome is present in the cell nuclei, causing
developmental abnormalities. (3 of the same
chromosome.)
Trisomy 21, better known as down syndrome, and is
the most common chromosome syndrome in
newborns.
Trisomy 16 will always end up being a miscarriage.
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A normal human will have 46 chromosomes,
but people with chromosome disorders do
not. That is why they may have a different
appearance or act differently.
People with these disorders have an altered
amount of chromosome numbers.
Due to these genetic diseases many of the
results will end up in miscarriages or babies
being born with mental retardation.
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Genetic disorders usually happen when
abnormal genes are inherited from the
parents. This is cases like monosomy or
trisomy. Both of these are genetic
abnormalities that result in mental
retardation or are not compatible with life.
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Children with a chromosome syndrome are
usually diagnosed with a particular syndrome
at birth.
Doctors can visually see a disorder by the
babies appearance.
A further look into their chromosome will
show what is particularly wrong with the
baby.
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An extra or not enough chromosomes is the
cause of mental disabilities.
Women who are 35 and alder, who give birth
to newborns have a 2% chance of a baby
having a chromosome disorder.
An alteration that can take place on a
chromosome is in the form of monosomy.
Monosomy is where there is only one chromosome,
when there should be two.
For example, Monosomy 21 is a rare chromosomal
disorder where there is only one copy of
chromosome 21 instead of the normal two.
Monosomy cases are not compatible with life, and
result in miscarriages and stillbirths.
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Although many of these disorders results in
death, one of them has a life expectancy that
last over 55 years. That is down syndrome.
Since the life expactancy is very long this can
be considered the best chromosomal
disorder.
As you can see, the life
expectancy has gone up
by 31 years since the
80’s.
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Trisomy 21 is what we call down syndrome.
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It is an extra copy of chromosome 21.
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The possibility of having a child with down
syndrome is 1 in 800 live births.
It was discovered in England by Dr. John
Down in 1866.
He was an English physician
who devoted all his time to
children with mental retardation.
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He noticed many similarities in all the children
with down syndrome, which made him want to
pursue a research project on it.
He was unable to find the cause of it, but he is
credited to discovering down syndrome,
which led scientists to name it after him.
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This condition leads to both the physical and the
mental growth of the people who are born with
it.
Trisomy 21 is caused by an error in cell division
called nondisjunction, which leaves a sperm or
egg cell with an extra copy of chromosome 21
before or at conception.
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Nondisjunction- is the failure of chromosome
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pairs to separate properly during meiosis stage 1
or stage 2, specifically in the anaphase
On the left is what a normal person would
look like and on the right is what a person
with down syndrome would look like.
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Trisomy 18, is also known as Edwards
Syndrome.
Trisomy 13, is also known as Patau
Syndrome.
Monosomy X, is also known as Turner-Ulrich
Syndrome.
XXY Syndrome, is also known as Klinefelter
Syndrome.
Most of these are chromosome disorders that
may result in a miscarriage or mental
retardation.
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