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HSU LILLIAN Y. F. MD; BARCINSKI, MARCELLO MD; SHAPIRO, LAWRENCE R. MD; VALDERRAMA, ELSA MD; GERTNER, MELVIN MD; HIRSCHHORN, KURT MD
Obstetrics & Gynecology: November 1970
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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