Trisomy 13 Report of 6 Cases Patau Syndrome

Professor M.H. Soltanzadeh MD
Professor of Pediatrics, ID ,
Shahid Beheshti University of Medical Science ,
Tehran ,IRAN


Genetic abnormalities are cited as the prevalent cause of importance and common causes of morbidity and mortality during infancy and childhood . its prevalence is 1/7000 to 1/ 20000 live births which increases with an increase of maternal age . their prognosis is poor with 50 % mortality in the first month and mortality of the rest die in the first year of life .

Only 18% survive the first year with accompanying abnormalities such as lack of mental development convulsions and lack of delayed growth . Diagnosis can be made prior birth amniocentesis. Its prevalence is the same in both males and females .

To study Patau Syndrome ( trisomy 13 ) 6 patients with disorder were evaluated. 3 of the patients were male and the other 3 females. Their age ranged between 1 days to 6 months and their mean weight was 2.320 kg . The mean maternal age during conception was 25.8 years .

All the cases were of Karyotype 47XX+ 13 . Their abnormal features included facial malformations, ophthalmic abnormalities,cleft lip and palate ,short and wide noses, low weight ,interventricular and septal defects ,kidney malformation ,omphalocele, microcephaly, and hypertelorism. 4 cases died befor 9 months of age and other 2 were alive during the completion of this study