Trisomy 13 (Patau Syndrome)

~~Ansley Plym
Patau_Syndrome_Trisomy_13-3.jpeg
Actual photos are too disturbing.

Nature of the Genetic Difficulty


Trisomy 13 is a genetic disorder in which a person has three copies of Chromosome 13, rather than the normal two copies. Trisomy 13 can also occur when part of Chromosome 13 become attached to another part of the genetic material. Mosaic Trisomy 13 occurs when a person has an extra copy of Chromosome 13 in only some of the cells in their body. Severity of the disorder depends on the type and number of cells with the extra chromosome. Mosaic Trisomy 13 is generally milder than full-on Trisomy 13. (ghr.gov)

Basic Facts of Disease

Due to the extreme complications of Patau Syndrome, not many Patau babies are live-born. As such, babies born with this disorder are rare; it occurs in approximately 1 out of 10,000 newborns (ncbi.gov). In most cases the disorder has not been inherited. Rather, it is generally an acute problem with the sperm or egg that formed the fetus.


80% of children with Trisomy 13 die within the first year (ncbi.gov)

Prognosis

Most infants with Trisomy 13 have congenital heart disease.

Symptoms of Trisomy 13 include but are not limited to:
  • Cleft lip
  • Close-set eyes
  • Extra fingers or toes
  • Severe mental retardation
  • Seizures
  • Small eyes
  • Small head
  • Small lower jaw
  • Hernias
  • Malformed Ears
(ncbi.gov)

Sources Cited


www.ncbi.nlm.nih.gov

www.ghr.nlm.nih.gov