Trisomy 13 is associated with anorectal malformations

Babies with trisomy 13 (Patau’s syndrome) have a median survival of 2.5 days, with only 5% surviving beyond 6 months. There are three cases of trisomy 13 with anorectal malformation in the English literature; a partial trisomy of chromosome 13q and 20p,1 a mosaic form (46,XX,t(13q13q)/46,XX,−13,+r(13))2 of trisomy 13 and a third case in which the form of trisomy 13 was not described.3 We report a case of full trisomy 13 with an unusual anorectal malformation. A boy delivered at 36 weeks’ …