Al. Webb et al., MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME-2 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-2 AND SEVERE INTRAUTERINE GROWTH-RETARDATION, Prenatal diagnosis, 16(10), 1996, pp. 958-962
We report a liveborn infant with severe intrauterine growth retardatio
n and renal failure, delivered following detection of non-mosaic triso
my 2 by chorionic villus biopsy in the first trimester. Detailed analy
sis post-delivery indicated apparent complete trisomy 2, of the chorio
nic tissues, with a chromosomally normal infant demonstrating maternal
uniparental disomy for chromosome 2.