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
- "Trisomy 13." Genetics Home Reference. Web. 22 Jan. 2015. <http://ghr.nlm.nih.gov/condition/trisomy-13>.
- "Trisomy 13 (Patau Syndrome)." - AboutKidsHealth. Web. 22 Jan. 2015. <http://www.aboutkidshealth.ca/EN/HEALTHAZ/CONDITIONSANDDISEASES/GENETICDISORDERS/Pages/trisomy-13-patau-syndrome.aspx>.
"Trisomy 13: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine. Web. 22 Jan. 2015. <http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm>.