We report on a triploid infant who survived for 46 days. She had severe int
rauterine growth retardation, relative macrocephaly, and a small, noncystic
placenta, which are manifestations compatible with type II phenotype. Cult
ured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blo
od lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromos
omal heteromorphisms and microsatellite DNA polymorphisms in the infant and
her parents indicated that the extra haploid set in the infant resulted fr
om nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisju
nction was ruled out because of the presence of both homozygous and heteroz
ygous markers of maternal origin. A search of the literature demonstrated f
ive triploid infants, including the girl we described, who survived 4 weeks
or more, and the parental origin of whose triploidy was studied: four were
digynic and one was diandric, These findings support the notion that type
II triploids are digynic in parental origin and that they survive longer th
an type I, diandric triploids. (C) 1999 Wiley-Liss, Inc.