Trisomy 13 cause and symptoms
13, which is also called Patau syndrome, is a type of chromosome disorder classified
by having three copies of chromosome 13 in cells of the body, instead of the
usual two copies. In some affected people, only a portion of cells contains the
extra chromosome 13, which is called mosaic
Trisomy 13, while other cells contain the normal chromosome pair. Mosaic Patau syndrome is not inherited. In
rare cases, the extra material can be attached to another chromosome, which is
called translocation. People with this disease usually have severe cerebral
incapacity and physical deformities in several parts of the body.
who have Trisomy 13 often have weak muscle
tone, heart defects, very small or poorly developed eyes, an opening in the
lip, with or without an opening in the roof of the mouth, brain or spinal cord
abnormalities, extra toes or fingers, and babies have trouble feeding or
digesting food. Babies often have low birth weight due to Trisomy 13.
usually diagnose babies by fetal ultrasounds during the first trimester of a
pregnancy. There are many screening tests, such as cell-free DNA screening or
the pregnancy-associated plasma protein A. Other tests that are more certain
are a chorionic villus sampling or amniocentesis.
is no cure for Trisomy 13; however, doctors focus treatment on the patient’s
symptoms. Patients are given therapy and even surgery to correct abnormalities.
Each patient’s situation may vary.
infants with this disease may have several life-threatening medical problems,
many infants with Trisomy 13 die within their
first days or weeks of life. Newborns that have this disease have to combat
pneumonia, seizures, congenital heart defects, and breathing difficulties.
According to WebMD, more than 80% of babies do not survive from this disease.
As a result, only five percent to 10 percent of children with this condition
live past their first year.
type of Trisomy is Trisomy 18. According
to WebMD, Trisomy 18 is also called Edwards syndrome, per the doctor who first
described this disease. Trisomy 18, like the other trisomies, has three copies
of extra chromosome. Instead of having a total of 46 chromosomes, number
eighteen is tripled. The extra chromosomes can come from either the father or
the mother of the fetus. Three types of Trisomy 18 are full Trisomy 18, partial
Trisomy 18, and mosaic Trisomy 18(either the extra chromosome is in all of the
cells, part of the cells or is in only some of the baby’s cells).
include: deformed feet, low-set ears, cleft palate, clenched fists with
overlapping fingers, and defects of the heart, lungs, kidneys and intestines.
There is also severe developmental delays, slowed growth. Newborns can have a
small head, small jaw, weak cry, and have problems with feedings.
order to diagnose, the doctor may check during pregnancy ultrasound.
Ultrasounds are not as accurate as other tests. Thus, the doctor may recommend
checking the cells by an amniocentesis or placenta (chorionic villus sampling).
Some parents may elect to have a chromosome blood test after giving birth which
would report the likelihood of having another baby with the same disorder. The doctor may also recommend mothers to see a
genetic counselor. Treatment is aimed at correcting the symptoms with therapy
to Stanford Children’s Health, there are few reports stating that babies
survive to their teens with this disease, but it is rare. The majority of
babies born with Trisomy 18 die by their first birthday. A handful of patients
live well into their 20s and 30s.
Moreover, Trisomy 21, also known as
Down syndrome, is the most common type of genetic disorders. Down syndrome was
discovered in 1866 and named after Dr. John Langdon, who first discovered it.
Just like the other trisomies, Trisomy 21 has three copies instead of the usual
pair. According to the National Down Syndrome Society, there are more than
350,000 people living with Down syndrome in the United States.
are three types of Down syndrome and each have a different cause. First, there
is Trisomy 21, which causes most cases. When the egg and the sperm unite to
form the fertilized egg, three instead of two chromosomes 21 are present. As
the cells divide the extra chromosome is repeated in every cell. Next, there is
mosaic Trisomy 21, a rare form of Down syndrome, in which the extra chromosome
21 is present in some, but not all cells of the patient. Abnormal cell division
happens after fertilization. The third type is Translocation Trisomy 21, where
part of chromosome 21 becomes attached (translocated) to another chromosome (usually
the 13th, 14th or 15th chromosome). Translocation can happen before or at
include slanting eyes, small mouth, short neck, flat face, low muscle tone.
People will also have small ears and below average intelligence. These symptoms
are for most people living with Down syndrome.
diagnose Down syndrome, doctors use screening tests, diagnostic tests, and
blood test and physical exams. Sometimes they test both the mother and the
baby’s blood. The results for these diagnostic tests could take could take up
to 2 to 3 weeks.
for Down syndrome is aimed at the symptoms. Some children with Down syndrome
are provided physical and speech therapy. Adults that have Down syndrome are
offered occupational therapy in order to acquire skills to live on their own.
Counseling may be offered to help with emotional issues and blending into
the past people with Down syndrome mainly lived up to nine years old. According
to Medicine net, people with Down syndrome can now live up to 50 years and
more. Things have changed drastically for people living with Down syndrome.
though most people know of one Trisomy such as Down syndrome, we now know that
there are several. Each Trisomy has similarities and differences. Knowledge is
power. When we have more information on a disease then we can understand it