TRISOMY 13

( Patau Syndrome )

GENETIC TRANSMISSION

  • Also know as Patau Syndrome, Trisomy 13 is a chromosomal disease that affects patients both physically and intellectually.
  • Most cases have 3 copies of chromosome 13.
  • It is neither dominant nor recessive.

SYMPTOMS, DIAGNOSIS, AND FREQUENCY

  • Most cases are not inherited.
  • 1/16,000 newborns are affected.
  • Can be suggested by a detailed ultrasound, or diagnosed with a physical examination. A small blood sample may be taken to confirm it.
  • Symptoms are as follows: clenched hands, extra fingers or toes, close-set eyes (may even fuse into one eye,) low-set ears, small head and eyes, seizures, and more.

LIFE EXPECTANCY AND TREATMENTS

  • 90% of babies die at year one. Only 5-10% of the babies survive their first year, and living to their teens has been recorded, though it is rare to.
  • There is no specific one treatment. Varies and depends on the patient's symptoms.

INTERESTING FACTS

  • Not unusual for a child to be born deaf, blind, or with no sense of smell.
  • First described in 1657.
  • Since 1657, little to no better outlooks are provided.
  • Often associated with older mothers.
  • The risk of having a second child with Trisomy 13 are very low.
  • Random events during the sperm and egg being formed cause this.

SOURCES