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Trisomy 13
Alternate Names : Patau Syndrome
Definition Trisomy 13 is a syndrome associated with the presence of a third (extra) number 13 chromosome.
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Overview, Causes, & Risk Factors
Trisomy 13 occurs in about 1 out of every 5,000 live births. It is a syndrome with multiple abnormalities, many of which are not compatible with more than a few months of life. Almost half of the affected infants do not survive beyond the first month, and about three quarters die within 6 months.
Trisomy 13 is associated with multiple abnormalities, including severe mental defects and defects of the brain that lead to seizures (hypsarrhythmia), apnea, deafness, and ocular (relating to the eye) abnormalities.
The eyes are small with defects in the iris (coloboma). Most infants have a cleft lip and cleft palate, and low-set ears. Congenital heart disease is present in approximately 80% of affected infants. Hernias and genital abnormalities are common.
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• Definition
• Trisomy 13 Overview, Causes, & Risk Factors
• Trisomy 13 Symptoms & Signs
• Trisomy 13 Prevention
• Trisomy 13 Diagnosis & Tests
• Trisomy 13 Treatment
• Trisomy 13 Prognosis
• Trisomy 13 Complications
• Trisomy 13 Support Groups
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Atrial Septal Defect
• Congenital Heart Disease
• Hernia
• Mental Retardation
• Mosaicism
• Patent Ductus Arteriosus
• Umbilical Hernia
• Undescended Testicle
• Ventricular Septal Defect
Tests & Exams
• Amniocentesis
• Karyotyping
Other Topics
• Breathing - Slowed or Stopped
• Chromosome
• Coloboma of the Iris
• Hypotonia
• Microcephaly
• Micrognathia
• Motormental Retardation
• Pinna Abnormalities and Low-Set Ears
• Polydactyly
• Seizures
• Simian Crease
• Skeletal Limb Abnormalities
• Translocation
Review Date : 8/19/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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