title: Chromosomal anomalies in the etiology of anorectal malformations: a review.
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.
authors: Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. C.Marcelis@antrg.umcn.nl
authors: Carlo
authors: C
authors: Marcelis
authors: Ivo
authors: I
authors: de Blaauw
authors: Han
authors: H
authors: Brunner
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001003:Anal Canal / Q000002:abnormalities; D000071056:Anorectal Malformations; D001006:Anus, Imperforate / Q000209:etiology* / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002877:Chromosomes, Human / Q000235:genetics; D030541:Databases, Genetic; D005820:Genetic Testing; D006801:Humans; D010641:Phenotype