Patau syndrome
Patau Syndrome
Patau syndrome, also known as trisomy 13, is a severe genetic disorder where a person has three copies of genetic material from chromosome 13, instead of the usual two. The extra genetic material disrupts normal development, causing multiple and complex organ defects.
Pronunciation
Patau syndrome is pronounced as puh-tau sin-drohm.
Etymology
The syndrome is named after Dr. Klaus Patau, a German-American geneticist who first identified the condition in 1960.
Symptoms
Symptoms of Patau syndrome can vary among individuals. Some common symptoms include:
- Microcephaly (abnormally small head)
- Cleft lip and cleft palate
- Polydactyly (extra fingers or toes)
- Congenital heart defects
- Seizures
- Intellectual disability
- Hypotonia (low muscle tone)
- Microphthalmia (abnormally small eyes) or Anophthalmia (absence of one or both eyes)
Causes
Patau syndrome is caused by a random event during the formation of the egg or sperm in a parent. It is not typically inherited.
Diagnosis
Patau syndrome can be diagnosed during pregnancy through prenatal testing such as amniocentesis or chorionic villus sampling. After birth, a diagnosis can be confirmed through a chromosome analysis.
Treatment
There is no cure for Patau syndrome. Treatment is supportive and depends on the specific symptoms and severity in each person.
Prognosis
The prognosis for individuals with Patau syndrome is poor. Most infants with the condition do not survive past their first year of life due to severe heart defects and other complications.
See also
External links
- Medical encyclopedia article on Patau syndrome
- Wikipedia's article - Patau syndrome
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