CAUSES OF DOWN SYNDROME

BY:ARSHIA KANWAL
 IS COUSIN MARRIAGE A CAUSE OF
CONCERN?
• Over a billion people worldwide live in
regions where 20-50 per cent of marriages
are consanguineous, and first-cousin
unions are especially popular. Discussion
of this phenomenon is confused by the
fact that its causes are social and
economic, while its outcomes tend to be
measured in terms of child health.
 T21 and consanguinity
• . Free trisomy (92.1%, n = 35) was the most common
chromosomal abnormality. e frequency of DS was
higher among the non-consanguine marriages (71.1%)
in comparison with the consanguine marriages
(28.9%). Mean age of the mothers in the consanguine
marriages (mean = 27.1 ± 6.3) was lower than in the
non-consanguine marriages (mean = 31.1 ± 7.7).
Conclusion: Higher frequency of DS among the non-
consanguine marriages in comparison with the
consanguine marriages, may suggest that DS diagnostic
tests might be done on all embryos regardless of the
parents’ familial relationship.
• Each carrier has a 50% chance of passing on the
dangerous allele to their child, but when a gene is
rare in a population, few individuals are carriers.
Trouble is, cousins share one set of grandparents.
While the odds of either grandparent being a carrier
of a rare allele are low, if one grandparent is a
carrier, then there is a 50% chance that each of their
children (the cousins’ parents) are also carriers. So
the risk of a child inheriting two copies of a
dangerous allele is elevated compared to non-
related marriages since they have a greater chance
of inheriting the same recessive allele from their
common ancestors.
 Maternal age
• Some parents have a greater risk of having a
baby with Down syndrome. Risk factors
include: Advancing maternal age. A woman's
chances of giving birth to a child with Down
syndrome increase with age because older
eggs have a greater risk of improper
chromosome division.
 Errors with age?
• A woman age 35 years or older is at higher
risk of having a baby with a chromosomal
abnormality. This is because errors in meiosis
may be more likely to happen as a result of
the aging process.However, as women
approach the menopause and the risk of
future infertility increases, this selection, or
filtering stringency, is expected to relax.
Women are born with all of their eggs already
in their ovaries.
 Why only maternal age?
• When a mother will be 35 years of age at delivery (or older), she may be referred
for genetic counseling or for prenatal diagnosis such as an amniocentesis because
of her age. There is a difference in the way that eggs and sperm are made. Women
are born with all the eggs they will ever have, and over time, there are fewer and
fewer available in the ovaries. If a woman is 35 years old, the eggs in the ovaries
are also 35 years old. The risk for a baby to be born with a chromosome
abnormality increases with the age of the mother. Some scientists and physicians
believe that this is because the eggs are aging, and may have the incorrect number
of chromosomes at the time of fertilization. Errors in meiosis may be more prone
to happen as a result of the aging process.

• Men, on the other hand, produce new sperm continually. Therefore, if a man is 35
years of age, his sperm are not 35 years of age. There is, therefore, no increased
risk for chromosome abnormalities to occur based on the age of the father. This
does not mean that chromosome errors do not happen in the sperm cell. They do.
They are just not associated with the age of the father.
 Age Not Only Factor In Down
Syndrome: Number And Age Of
Existing Siblings Are Also Influential
• Whether or not a pregnant woman will give birth to a
child with Down Syndrome is not simply a matter of
how old she is. Although it is a fact that as women get
older, they are more likely to have a child with Down
Syndrome, other factors also play a role. According to
Markus Neuhäuser and Sven Krackow, from the
Institute of Medical Informatics, Biometry and
Epidemiology at University Hospital Essen, in Germany,
the risk of a child being born with Down Syndrome is
also dependent on how many existing siblings the child
has and how big the gap is between the child and his
immediate preceding sibling. The research is published
in Springer’s journal Naturwissenschaften this week.
 Age below 35
• Previous miscarriages: Having had several
miscarriages may increase the risk of having a
baby with a chromosomal
abnormality.Moreover,the women having
frequent pregnancies,without appropriate
intervals,are at a risk of DS baby.
 INHERITANCE PATTERNS OF DS
• Most cases of Down syndrome are not inherited. When
the condition is caused by 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 results in a reproductive
cell with an abnormal number of chromosomes. For
example, an 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 extra chromosome 21 in
each of the body's cells.
• People with translocation Down syndrome can inherit the
condition from an unaffected parent. The parent carries a
rearrangement of genetic material between chromosome
21 and another chromosome. This rearrangement is called
a balanced translocation. No genetic material is gained or
lost in a balanced 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. People who inherit
an unbalanced translocation involving chromosome 21 may
have extra genetic material from chromosome 21, which
causes 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 have
three copies of this chromosome.