Trisomy13 (a.k.a. Patau Syndrome)

Background-

  • results from having three copies of genetic material from chromosome 13 versus the usual two copies in each cell

  • Only a percentage of cells may be affected
  • Discovered by Klaus Patau in 1960
  • Occurs in 1 in 16,000 newborns

Inheritence-

  • most cases are not inherited (result from random errors during the formation of egg and sperm in healthy parents)
  • Some cases are inherited due to balanced translocations

Tests-

  • Aminocentesis-chromosomal studies of amniotic cells

Characteristics-

  • cleft lip/palate
  • close-set eyes--eyes may actually fuse into one
  • extra fingers/toes
  • hole,split, or cleft in the iris
  • severe mental retardation
  • small eyes, head, lower jaw
  • congential heart disease
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Newborn affected by extra toes and fingers, close-set eyes, and a smaller head.
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Newborn affected with cleft palate and lip

Diagnosis-

  • chromosomal studies

Treatment-

  • varies from child to child and depends on specific symptoms

Prognosis-

  • more than 80% of children die within the first year

Support Organization for Trisomy 13 and Related Disorders



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Some newborns do survive.





1. Who discovered Trisomy 13?
2. What primarily causes some cases to be inherited?
3. What prenatal-test can determine whether or not the child has this disorder?
4. Name three characteristics of this disorder.
5. What is the prognosis?