A 40-year-old, phenotypically normal woman, with a history of two repeated abortions and no child, had two additional, small, bisatellited, and apparently metacentric chromosomes. Various banding and microsatellite analyses indicated that the additional chromosomes were inv dup(15)(q11q11) without the Prader-Willi/Angelman syndromes critical region, and therefore without phenotypic effects. Her father had a single, identical additional inv dup(15) chromosome. Her husband was chromosomally normal, but sperm analysis indicated a reduced motility and a reduced frequency of morphologically normal sperm. In view of these findings, it was deduced that the inv dup(15) chromosome in the father was transmitted in duplicate to the woman. Individuals with two additional inv dup(15) chromosomes in the literature were reviewed, and possible correlation of the two additional inv dup(15) chromosomes in the woman and her repeated abortions was discussed.
Copyright 2001 Wiley-Liss, Inc.