Down Syndrome or mongolism is a chromosomal anomaly that
causes intelligence and developmental delay. It is also called trisomy 21 or
mongolian child. The reason why it is called Mongol is because the facial
structure resembles the Mongol race in Asia.
Down syndrome is the 21st chromosome of the chromosomes,
which are normally 23 pairs per person. It is seen at a rate of 1 in 1000 live
births.
When born, it is typical for a flat face profile, flat nasal
bridge, small nose, ear-shaped abnormality, a single and deep line observed on
the palm, abnormal space between the first and second toes, and the tongue is
wider than the mouth size.
Children with Down syndrome have a classic facial image. The
head is smaller than normal. The face is flattened from the profile, the tongue
is large and outside. Average intelligence is lagging (IQ 25-50). When they
reach the adult age, they can only reach the capacity of a 8-10 year old child
as their intelligence age. In general, they can live dependent on others in
adulthood. They need special education.
Diagnosis:
Down syndrome can be recognized during pregnancy. The baby's
chromosome examination is performed by applying amniocentesis or other prenatal
genetic diagnosis methods to establish the exact diagnosis in pregnancies with
Down syndrome suspected by ultrasonography or triple, quadruple or double test.
If Down syndrome is detected, pregnancy can be terminated legally until the
24th week if the family wishes. The decision on this matter belongs to the
family.
In general, as the age of the mother increases, the risk of
delivering a baby with Down syndrome increases. The table below shows the risk
of giving birth to Down's syndrome in mothers of certain age ranges:
Problems
that can be seen in children with Down syndrome:
Congenital heart anomalies are frequently seen in these
children. Death at an early age is mostly due to heart anomalies.
Esophageal atresia (esophagus obstruction), duodenal atresia
(duodenal obstruction) is frequently seen in down syndrome. Due to these
anomalies, they may need surgical intervention in the first days of life.
- The frequency of leukemia (blood cancer) and Alzheaimer
disease has increased compared to normal in later years.
- There is a tendency to lung infection and sinusitis.
How long is
the lifetime?
The average life expectancy is 55 years. Some people with
down syndrome have heart, etc. Although they are lost at an early age due to
their problems, some may live up to the age of 70-80.
ADDITIONAL
INFORMATION:
- The most common sex chromosome anomaly in human is
Klinefelter syndrome (47, XXY). Intelligence is mostly normal in Klinefelter
syndrome. There is no increase in anomaly. One X chromosome that is excessive
in Klinefelter syndrome originates from 50% mother and 50% father.
- One of the most common heart anomalies in Down syndrome is
endocardial pillow defect.
- One of the most common gastrointestinal system anomalies in
Down syndrome is deudonal atresia and the syndrome most associated with
duedonal atresia is down syndrome.
- The most common aneuploidy in live births is trisomy 21.
The most common chromosomal disorder in live births is not trisomies, but
structural chromosomal anomalies.
- Women with Down Syndrome mostly have the ability to
conceive and give birth, their children have a 1/3 chance of having Down
syndrome. Men with Down Syndrome are almost always sterile, so they have no
chance of having a baby.
-PYELECTASIS OR HYDRONEPHROSIS
-SPINA BIFIDA
-SINGLE UMBLIKAL ARTERY
-TRISOMY 18
-VENTRICULOMEGALY
-CLEFT PALATE - LIP
