A report of recurrent anencephaly with trisomy 2p23‐2pter: additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis

A woman carrying a balanced reciprocal translocation, 46,XX,t(2;5)(p23;p15)pat, was ascertained following the delivery of an anencephalic fetus whose karyotype was 46,XY,5p+. She subsequently had two pregnancies with a similar unbalanced karyotype (trisomy 2p23-2pter and monosomy 5p15-5pter), one of which was also anencephalic. She has three living children, two of whom are balanced translocation carriers. This history raises questions regarding the necessity of cytogenetic assessment of cases identified by ultrasound with 'isolated' neural tube defects. The observation of duplication of the 2p23-2pter region in conjunction with anencephaly also adds to the growing body of evidence suggesting an association of this region and neural tube development.