Chromosomal anomalies in the etiology of anorectal malformations: A review

Authors

  • Carlo Marcelis,

    Corresponding author
    1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    • Department of Human Genetics, Radboud University Nijmegen Medical Centre, 849 Antropgenetica PO Box 9101, Nijmegen 6500 HB, Netherlands.
    Search for more papers by this author
  • Ivo de Blaauw,

    1. Department of Pediatric Surgery, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    2. Department of Pediatric Surgery, Erasmus Medical Centre, Rotterdam, The Netherlands
    Search for more papers by this author
  • Han Brunner

    1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Search for more papers by this author

  • How to Cite this Article: Marcelis C, de Blaauw I, Brunner H. 2011. Chromosomal anomalies in the etiology of anorectal malformations: A review. Am J Med Genet Part A 155: 2692–2704.

Abstract

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. © 2011 Wiley Periodicals, Inc.

Ancillary