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Chromosomal anomalies in the etiology of anorectal malformations: A review
Author(s) -
Marcelis Carlo,
de Blaauw Ivo,
Brunner Han
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34253
Subject(s) - etiology , chromosomal region , biology , chromosomal deletion , congenital malformations , genetics , gene , bioinformatics , medicine , pathology , phenotype , pregnancy , chromosome
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.