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Trisomy 13 (Patau Syndrome): Causes, Symptoms, Types, Diagnosis, Treatment And Prevention

Nov 09, 2023

Trisomy 13 (Patau Syndrome): Causes, Symptoms, Types, Diagnosis, Treatment And Prevention

Trisomy 13 (Patau syndrome) is the result of having the 13th chromosome in a person's DNA three times, as opposed to twice. Trisomy is a rare genetic disease. Trisomy 13 affects a child's face, brain, and heart development in addition to causing physical growth issues throughout the child's body. Trisomy 13 can have deadly symptoms and raises the risk of miscarriage or death before the child turns one year old.

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What Are The Physical Effects Of Trisomy 13 (Patau syndrome)?

Trisomy 13 may affect your child's growth and cause physical anomalies like low muscle tone, a petite head, cleft palate, extra fingers or toes, and extra fingers or toes. Furthermore, the illness might affect the development of your child's internal organs, which could lead to possibly fatal symptoms. After delivery, your child will likely spend a while in the neonatal intensive care unit (NICU), where, based on physical indicators, your doctor will administer life-saving care to maximise your child's chances of survival.

What causes trisomy 13 (Patau syndrome)?

A third chromosome 13 that unites with two chromosomes causes trisomy 13. A person with trisomy 13 has 47 chromosomes overall.

There are normally 46 chromosomes in your body. Chromosomes in cells carry DNA, which acts as a blueprint for the development and functioning of your body. Genes are chapters in your body's instruction manual, which is what your DNA is made of.

The cells that make up the reproductive organs begin as a single fertilised cell, consisting of an egg and sperm pair. Divided and replicating, the younger cells use half the DNA of the original.

 During this process of cell division, when cells copy the instruction manual word for word, trisomies, which occur when a third chromosome joins a pair, can occur randomly. If there is an error, which results from your cells not having the proper instructions to develop and operate, trisomy 13 symptoms appear.

Symptoms Of  Trisomy 13 (Patau syndrome) symptoms 

Every individual with trisomy 13 has symptoms that affect different parts of their bodies and range in severity. Among the symptoms of trisomy 13 are:

  • Heart problems that are present from birth are known as congenital heart defects.
  • Anomalies in physical growth, often result in spinal cord damage.
  • Serious issues with cognitive capacity.
  • Internal organs that are not developed.
  • Indications throughout the body

Trisomy 13 manifests physically in the following ways:

  • Cleft lip or palate 
  • Unable to gain weight
  • More fingers or toes (polydactyly).
  • growth in the ear region of the head.
  • Abnormalities in the growth of the arms and legs.
  • Hypotonia is characterised by decreased muscular tone.
  • Tiny head and jaw size.
  • Incredibly small, close together, or undeveloped eyes.

Indications of the internal organs

Trisomy 13 results in symptoms that affect the growth of internal organs, including:

  • Gastrointestinal (GI) problems that make eating difficult.
  • Cardiac failure.
  • Hearing issues.
  • Not fully developed lungs.
  • Visual problems.

Approximately 80% of infants with Trisomy 13 do not survive past their first year of life because of the potentially lethal nature of symptoms connected to internal organs. Those who survive beyond the first year may face more severe health problems, like an increased risk of cancer and seizures.

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Types Of Trisomy 13

One of three scenarios could result in a trisomy at chromosome 13, depending on how the chromosomes unite.

Total 13 Trisomy

Random copying errors that happen as the sperm and egg grow before conception, causing more genetic information to connect to a chromosome than is necessary, are the cause of trisomy 13 (full trisomy 13). People who have trisomy 13 have three copies of chromosome 13, not two. An overabundance of genetic material linked to chromosome 13 is what causes the syndrome.


The symptoms of a translocation, or the attachment of a segment of chromosome 13 to a nearby chromosome during foetal development, account for about 20% of cases of trisomy 13. A third copy of chromosome 13 forms and binds with an adjacent pair of chromosomes, though not necessarily in the 13th location. In this case, there are two pairs of chromosome 13.

13 mosaic trisomy

An extra copy of chromosome 13 can sometimes arise in some, but not all, of the body's cells. This shows that chromosome 13 is present in two (euploid) and three copies in some bodily cells. The degree of symptoms in a mosaic trisomy 13 diagnosis is based on the number of cells with the third copy of trisomy 13. The symptoms worsen in more cells that have a third copy.

How Is Trisomy 13 Diagnosed?

During the first trimester of pregnancy, your healthcare provider may do genetic testing in addition to prenatal ultrasounds. It is possible to do tests as early as 11 or 14 weeks to check for genetic anomalies like a third chromosome attached to a pair. Your baby's doctor confirms the diagnosis when the baby is born. He or she can also request any additional tests that might be needed and physically examine your child to look for symptoms.

During your pregnancy, your healthcare provider will perform screening tests that entail testing a sample of your blood in addition to an ultrasound. Your medical practitioner will look for signs of a trisomy, such as an excess of amniotic fluid, during the ultrasound. The most typical diagnostic procedure for trisomy 13 is a karyotype test.

What Is The Treatment Plan For Trisomy 13, or Patau syndrome?

Trisomy 13 must be addressed both soon after birth and gradually to help with any symptoms that may arise. Options for treating newborns with trisomy include:

  • Support for schooling.
  • Drugs that reduce the symptoms.
  • Behavioural, speech, and physical therapy.
  • Operations to fix any physical abnormalities.

Severe symptoms may mean that your child never gets to celebrate their first birthday, even though trisomy 13 can occasionally result in a live birth. Miscarriage or loss of pregnancy is the most common result of a trisomy 13 diagnosis. Ask for support from friends, family, and a medical professional during this difficult time to find comfort following a loss.

Bereavement counselling, often known as grief counselling, assists people in adjusting to their loss.

Prevention Of Trisomy 13

Trisomy 13 cannot be prevented because it results from an unexplained genetic abnormality. Pregnancy above 35 years of age increases the risk of having a child if you have a hereditary illness. If you plan to become pregnant and want to know whether there is a chance your unborn child will have a genetic condition, talk to your doctor about genetic testing.

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