Trisomy 13 in a 7-year-old girl with cerebellar tumor, eye abnormalities, and autistic features.

摘要

Trisomy 13 is a rare chromosomal disorder characterized mainly by microcephaly, structural eye anomalies, congenital heart defects, orofacial clefts, postaxial polydactyly, intellectual disability, and many other malformations. The syndrome was originally described by Patau et al. [ 1960]. The survival of children with the syndrome is usually limited to the first few months of life and rarely extend beyond the first year. Wyllie et al. [1994] found the average survival of 16 infants who were born alive was around 4 days and the longest survival was 3.5 months. Another population-based study showed that 91% of infants died within the first year of life [Rasmussen et al., 2003]. However, survival beyond the first 3 years has also been reported. Zoll et al. [1993] described an 11-year-old girl with full trisomy and suggested that the absence of cerebral and cardiovascular malformation allowed for the prolonged survival. A 19-year-old girl and an 11-year-old boy, of African-American ethnicity were also described by Redheendran et al. [1981] and recently a report of a 12-year-old with three cell lines was described [Fogu et al, 2008].