title: Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?
abstract: Recently, there have been several molecular studies of trisomic fetuses and liveborns which have examined the parent and meiotic stage of origin of nondisjunction. However, little is known about the possible phenotypic effects of the origin of trisomy. For trisomic spontaneous abortions, no distinct phenotype has been described, although some have been reported to have features, such as trophoblastic hyperplasia, similar to hydatidiform moles. In the present report, we describe molecular and histological studies of spontaneous abortions with trisomies 2, 7, 15, or 22, conditions occasionally linked to trophoblastic hyperplasia. Our results provide strong evidence for chromosome specific mechanisms of nondisjunction, with trisomy 2 having a high frequency of paternally derived cases and trisomy 7 typically originating postzygotically. In studies correlating parental origin of trisomy with phenotype, we found no difference in the proportion of cases with trophoblastic hyperplasia, fetal tissue, nucleated red blood cells, or hydropic villi among paternally or maternally derived trisomies 2, 7, 15, or 22. However, paternally derived trisomies tended to abort earlier than maternally derived trisomies. This suggests that parental origin might affect the developmental stage at which abortion occurs but not other features of placental phenotype.
authors.affiliation: Department of Genetics and the Center for Human Genetics, Case Western Reserve University, Cleveland, OH 44106, USA.
authors.forename: M V
authors.initials: MV
authors.lastname: Zaragoza
authors.forename: E
authors.initials: E
authors.lastname: Millie
authors.forename: R W
authors.initials: RW
authors.lastname: Redline
authors.forename: T J
authors.initials: TJ
authors.lastname: Hassold
mesh_terms: D000022:Abortion, Spontaneous / Q000209:etiology / Q000235:genetics; D002884:Chromosomes, Human, Pair 15; D002889:Chromosomes, Human, Pair 2; D002892:Chromosomes, Human, Pair 22; D002897:Chromosomes, Human, Pair 7; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D009630:Nondisjunction, Genetic; D010920:Placenta / Q000473:pathology*; D011247:Pregnancy; D014314:Trisomy; D014328:Trophoblastic Neoplasms / Q000235:genetics / Q000473:pathology; D018245:Trophoblastic Tumor, Placental Site / Q000235:genetics / Q000473:pathology