IEC 522 Disability Presentation

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Trisomy 13: 

Trisomy 13 By: Kelsey Holland

Distinguishing Characteristics: 

Distinguishing Characteristics Developmental delays Unusually small eyes Cleft lip and/or palate Undescended testes in males Extra fingers and toes

Incidence/Prevalence: 

Incidence/Prevalence 1 in 10,000 still and live births Difficult to estimate because of pregnancies terminated after prenatal diagnosis Chances increase with age

Diagnosis: 

Diagnosis Blood sample Physical examination Amniocentesis

Etiology: 

Etiology Chromosome 13 appears three times instead of two

Resources for Families: 

Resources for Families Support Groups Books Websites

Sources: 

Sources http://www.trisomy.org/resources/helpful-links/ http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/trisomy.html http://www.ascensionhealth.org/index.php?option=com_content&view=article&id=225&Itemid=172 http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/218/viewAbstract