Two inv dup(15) chromosomes in a woman with repeated abortions

Abstract

A 40-year-old, phenotypically normal woman,with a history of two repeated abortions andno child, had two additional, small, bisatel-lited, and apparently metacentric chromo-somes. Various banding and microsatelliteanalyses indicated that the additional chromo-somes were inv dup(15)(q11q11) without thePrader-Willi/Angelman syndromes critical re-gion, and therefore without phenotypic effects.Her father had a single, identical additionalinv dup(15) chromosome. Her husband waschromosomally normal, but sperm analysisindicated a reduced motility and a reducedfrequency of morphologically normal sperm.In view of these ®ndings, it was deduced thatthe inv dup(15) chromosome in the father wastransmitted in duplicate to the woman. Indi-viduals with two additional inv dup(15) chro-mosomes in the literature were reviewed, andpossible correlation of the two additional invdup(15) chromosomes in the woman and herrepeated abortions was discussed.