AbstractThis report describes a baby with trisomy 13 (Patau syndrome) with imperforate anus. It is very unusual for Patau syndrome to be associated with anorectal malformation. In the English medical literature, there are only four reported cases of trisomy13 being associated with imperforate anus: a partial trisomy of chromosome 13q and 20p [Nagai et al. Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. Clin Genet. 1994;45:272–3.], a mosaic form [46,XX,t(13q13q)/46,XX,–13,+r(13)] (Jalal et al. Unusual mosaic trisomy 13 through 13/13 translocation and monosomy 13 with a small ring. Ann Genet. 1990;33:173–5.) of trisomy 13, a third case in which the form of trisomy 13 was not described (Cho et al. One hundred three consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med. 2001;155:587–91.) and a fourth case of trisomy 13 with a Robertsonian translocation of the extra chromosome 13 to chromosome 14 (Lewis and Lander. Trisomy 13 is associated with anorectal malformations. Arch Dis Child. 2007;92:185.).
