Recurrent neural tube defects associated with partial trisomy 2p22-pter: Report of two siblings and review of the literature

Recurrent neural tube defects associated with partial trlsomy 2p22-pter: report of two siblings and review of the literature: We report on two male siblings with partial trisomy 2p22-pter and partial monosomy 15q26-qter resulting from a maternally derived transiocation t(2;15)(p22;q26). Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of pregnancy. This report demonstrates the importance of chromosomal analysis in the etiologic exploration of neural tube defects and supports the importance of 2p24 triplication in neural tube development.