Chromosomal aberrations were found in an infant with midline fusion defects and in both phenotypically normal parents. Both mother and infant had a pericentric inversion of a number 2 chromosome and increased frequencies of chromatid and chromosome breaks. The infant also had a B ring in some cells and partial deletion of the long arm of a B chromosome in other cells. The father was mosaic for trisomy D. The obstetric history of this couple –ie, three spontaneous first-trim ester abortions and one stillbirth, indicates that parental chromosomal aberrations may result in fetal wastage. The probable mechanisms of formation and transmission of the chromosomal aberrations are discussed.
© 1970 The American College of Obstetricians and Gynecologists