![]() [Home] [Questions] [To A Parent] [About Us] [Resources] [Pictures] [Reading] [For Relatives] [Stories] [Forum] [Site Map] What is Down Syndrome?
![]() The chromosomes of a boy with Down
Syndrome. The arrow points to the extra chromosome 21.
What are chromosomes?
Our chromosomes contain the genetic
code which controls and instructs cell division, growth, and function. They
are the structures inside the nucleus of living cells that contain hereditary
information. A person normally has 46 chromosomes, 23 inherited from each
parent. Every person has a unique genetic code (with the exception of identical
twins). It is this uniqueness which makes the physical appearance of each
person different.
How do we get our chromosomes?
Our chromosomes are given to us
by our parents. Each parent gives us 23 chromosomes which come from the
egg and sperm cells. When they combine, they produce a cell with 46 chromosomes.
This cell then divides, the result being that every cell contains identical
genetic material.
What is Down syndrome?
Down syndrome is caused by a person
having three copies of chromosome 21 instead of two copies. This is why
Down syndrome is also referred to by the name Trisomy 21. The picture above
shows a genetic analysis of a person with Down syndrome. You will notice
that the arrow is pointing to the set of number 21 chromosomes. Instead
of a pair of chromosomes, as is found in all the other chromosomes, number
21 includes three chromosomes. It is important to understand that all of
the chromosomes of this person are normal. It is the fact that there is
an extra chromosome that causes Down syndrome. Every cell in a person with
Down syndrome will contain 47 chromosomes (with the exception of Mosaic
Down syndrome which is discussed below) instead of 46 chromosomes. There
are many theories about how the extra chromosome causes the effects of
Down syndrome but little is currently known. Research, however, is continuing
and a breakthrough may provide possible treatments to lessen the effects.
How does this happen?
During cell division to create a
germ cell (either sperm or egg), a cell containing 46 chromosomes divides
into two germ cells each containing 23 chromosomes. Sometimes this division
does not happen properly and one cell may contain 22 chromosomes and the
other may contain 24 chromosomes. This can happen if the chromosomes do
not properly separate and instead "stick together." This is called nondisjunction
because the chromosomes have failed to disjoin or split-up. 75% of the
time it is the egg cell which carries the additional chromosomal material,
25% of the time it is the sperm cell. If the cell containing 24 chromosomes
combines with a cell containing 23 chromosomes, the new cell will contain
47 chromosomes instead of 46. If the trisomy is chromosome 21, the person
will have Down syndrome. Other conditions arise if the duplicated chromosome
is a different chromosome. If the trisomy is chromosome 13, the person
will have Patau's syndrome. If the trisomy is chromosome 18, the person
will have Edward's syndrome. These conditions are rarer than Down syndrome
and have their own characteristics which are different than Down syndrome.
Are there different types of Down syndrome?
There are three different types
of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism.
Standard Trisomy 21 is when the
extra chromosome 21 comes from either the egg or sperm cell. Between 90%
and 95% of all Down syndrome is Standard Trisomy 21.
Translocation is caused when a piece
of chromosome 21 is located on another chromosome such as chromosome 14.
The person with Translocation Trisomy 21 will have 46 chromosomes but will
have the genetic material of 47 chromosomes. The person with Translocation
Trisomy 21 will exhibit all the same characteristics of a person with Standard
Trisomy 21 since they have three copies of chromosome 21. Translocation
occurs between 3% and 5% of cases of Down syndrome.
Mosaicism is when a person has a
mix of cells, some containing 46 chromosomes and some containing 47 chromosomes.
This occurs either because: a) The person received 46 chromosomes at fertilization
but somewhere during early cell division the chromosome 21 cell pairs failed
to split creating a cell with 47 chromosomes and a cell with 45 chromosomes.
The cell with 45 chromosomes can not survive but the cell with 47 chromosomes
will continue to divide. All cells that come from this cell will contain
47 chromosomes. b) The person received 47 chromosomes at fertilization
but later during cell division the extra chromosome is lost. Mosaicism
occurs in 2% to 5% of cases of Down syndrome. A person with Mosaic Down
syndrome may exhibit all, some, or none of the characteristics of Down
syndrome depending on the percent of cells carrying the extra chromosome
and where these cells are located.
Is Down syndrome inherited?
The vast majority of cases of Down
syndrome are not inherited. Only in cases of Translocation Down syndrome
and then in only 1 of 3 cases of this type of Down syndrome is the condition
inherited. These inherited cases occur because one of the parents is a
carrier. A carrier will have 45 chromosomes instead of 46 but they will
have all the genetic material of a person with 46 chromosomes. Remember
that in Translocation Down syndrome the extra chromosome 21 material is
located on a different chromosome. A carrier will have the extra material
but will have only one chromosome 21. The carrier will not exhibit any
of the symptoms of Down syndrome because they have the correct amount of
genetic material.
A carrier will have an increased
chance of having a child with Down syndrome. If the carrier is the mother,
the chances are approximately one in five of having a child with Translocation
Down syndrome. If the carrier is the father the odds are reduced to between
one in twenty to fifty. In cases where the carrier has no unattached chromosome
21, all the carriers children will have Down syndrome. In all cases of
Down syndrome but especially in cases of Translocation Down syndrome, it
is important that the parents have genetic counseling to determine their
risk.
Did I cause my child to have Down syndrome?
Simple answer: NO! There is nothing
you can do to prevent Down syndrome and nothing you can do to change your
odds of having a child with Down syndrome. Down syndrome occurs in all
races, in all socio-economic conditions, and in all countries. No relationship
between diet or illness and Down syndrome has ever been found. The only
established relationship is with maternal age. A woman is more likely to
have a child with Down syndrome as she grows older with a sharp rise in
risk at 35-40 years of age. However, 80% of all children with Down syndrome
are born to mothers under 35.
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