Anorectal malformation (ARM) is a severe congenital anomaly that can occur either isolated or in association with other congenital abnormalities. It has a heterogeneous etiology with contribution of both genetic and environmental factors, although the etiological factors remain largely unknown. Several chromosomal abnormalities have been described in patients with an ARM. These chromosomal abnormalities could point to specific genes involved in the development of the anorectal canal and associated structures. This paper reviews the chromosomal abnormalities described in ARM and may act as a starting point to identify chromosomal regions containing putative anorectal development genes.

American Journal of Medical Genetics. Part A
Erasmus MC: University Medical Center Rotterdam

Marcelis, C., de Blaauw, I., & Brunner, H. (2011). Chromosomal anomalies in the etiology of anorectal malformations: A review. American Journal of Medical Genetics. Part A, 155(11), 2692–2704. doi:10.1002/ajmg.a.34253