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Trisomy13 (a.k.a. Patau Syndrome)
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
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
Aminocentesis-chromosomal studies of amniotic cells
close-set eyes--eyes may actually fuse into one
hole,split, or cleft in the iris
severe mental retardation
small eyes, head, lower jaw
congential heart disease
Newborn affected by extra toes and fingers, close-set eyes, and a smaller head.
Newborn affected with cleft palate and lip
varies from child to child and depends on specific symptoms
more than 80% of children die within the first year
Support Organization for Trisomy 13 and Related Disorders
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?
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