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Patau Syndrome (Trisomy 13)

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Ismael Kaba

on 31 October 2012

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Transcript of Patau Syndrome (Trisomy 13)

Patau Syndrome Trisomy 13 Mode Of Inheritance Almost no cases are inherited
Mostly all cases are caused by non-disjunction during meiosis General Information Signs Abnormal placement of the heart (towards right side of chest Rotation of internal organs Brain structure is not correct. Two halves of brain are joined together Single umbilical artery (instead of the normal two) Symptoms Cleft lip or palate
Clenched hands
Close set eyes, or even fused eyes
Decreased muscle tone
Extra fingers/toes
Low set ears
Mild to severe mental retardation
Missing skin on the scalp
Skeletal abnormalities (physical disabilities)
Small eyes, head, and lower jaw Life Span/Prognosis About 45% of Trisomy 13 babies die within the first month About 70% die after the first 6 months About 90% die after the first year Survival into the teens is extremely rare One record of Trisomy 13 patient living until 33 years old Median survival is 2.5 days What is Trisomy 13? Trisomy 13 means there is an extra copy of chromosome 13 in all cells of the body Treatment Largely depends on the different symptoms the baby is showing and the combination of them Surgery maybe be necessary to repair major physical deformities (cleft lip/palate) and complex heart defects. Physical and speech therapy is also a big part of treatment if the baby survives long enough For feeding complications, tube feeding or the placement of a gastric tube may be necessary. Special diets, hearing aids, and vision aids can be used to help patients deal with symptoms Since it is a genetic disease, genetic counseling should be part of the parent plan to help their child. Research Scientists observe the eggs and sperm of mice to learn more about Trisomy's Trisomy There are three different trisomy's that a fetus can survive and be born; on chromosome 13, 18, and 21. A trisomy is a genetic disease caused by the failure of chromosomes to separate properly (non-disjunction) during the division of sex cells (meiosis). Sex cell ends up with 24 chromosomes instead of the normal 23, therefore resulting zygote will have 47 chromosomes instead of 46. Extra copy is extra genetic information, and is unpaired Doesn't allow any of the cells to function properly So... The Support Organization of Trisomy (SOFT) is an organization that wants to reach out to people affected by trisomy in any way Genetic research is always being done to learn ways of preventing trisomy's, or how to help with the symptoms In Conclusion... The trisomy of chromosome 13 causes many problems
It is very rare that babies survive more than a couple months
The symptoms are almost always very severe
There is no cure, because disjunction cannot be predicted and stopped
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