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Trisomy 13
- 2. Trisomy 13 (also called Patau syndrome)- a genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies First identified and observed by Danish physician Thomas Bartholin in 1657. The chromosomal nature of the disease was ascertained by Dr.Klaus Patau in 1960. The disease is named in his honor Incidence- about 1 in 5000 to 12000 live births (Jones, 2006)
- 3. Causes Complete trisomy 13 or Full trisomy 13 - typically due to having three full copies of chromosome 13 in each cell in the body, instead of the usual two copies Translocation trisomy 13- Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of eggs or sperm, or very early in fetal development Partial trisomy 13 - In rare cases, only part of chromosome 13 is present in three copies in each cell (rather than the full chromosome) Mosaic trisomy 13 - In other rare cases, a person has an extra copy of chromosome 13 in only some of the body's cells
- 4. Signs and Symptoms Trisomy 13 is associated with multiple serious life-endangering birth defects Cleft lip and/ or palate (Unilateral or bilateral CL ± P is seen in 60% to 80% of cases (Jones, 2006)) Polydactyly(extra fingers and/ or toes) Microcephaly Rocker bottom feet Hypertelorism, close set eyes, Small or no eyes Spina Bifida Severe brain anomalies Congenital heart defects
- 5. Rocker bottom feet Spina Bifida Polydactyly Eye abnormalities
- 6. Other symptoms Kidney defects No abdomen wall Malformed ears Umbilical hernia Seizures Intellectual disabilities or Mental retardation Hands are clenched or folded Defects in the scalp
- 7. Diagnosis Prenatal Fetal ultrasonography Amniocentesis Chorionic villus sampling (CVS) Post natal Clinical evaluation/ detection of characteristic physical findings Chromosomal analysis
- 8. Treatment There is no cure for Patau Syndrome Treatment is generally symptomatic and supportive Following measures maybe taken to fix the symptoms Surgeries Nasogastric feeding Occupational, physical and speech therapy Genetic counselling for the family
- 9. Prognosis More than 80% of patients do not survive beyond the first month of their lives. Over 90% of affected children die before their first birthday, usually from a central nervous system or cardiac event. People with trisomy 13 who survive infancy are typically severely disabled with intellectual disability, seizures and psychomotor issues
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