The implications of terminal 6q deletion syndrome: determining appropriate anticipatory guidance, evaluation, and management: a case report and analysis of published literature

Terminal 6q deletions have been infrequently described and have a variable phenotype.The constellation of symptoms described includes characteristic facies, developmental delay, growth delay, urogenital abnormalities, brain malformations, and cardiovascular malformations.Identification of a terminal 6q deletion should prompt an appropriate evaluation as well as thorough anticipatory guidance for the family.Here we describe an additional case of a terminal 6q deletion and review all previously reported cases.