Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?

M V Zaragoza; E Millie; R W Redline; T J Hassold

doi:10.1136/jmg.35.11.924

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Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?

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Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?

M V Zaragoza, E Millie, R W Redline and T J Hassold

Journal of medical genetics, Vol.35(11), pp.924-931

11/1998

DOI: https://doi.org/10.1136/jmg.35.11.924

Handle:

https://hdl.handle.net/2376/105325

PMCID: PMC1051486

PMID: 9832040

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https://doi.org/10.1136/jmg.35.11.924View

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Abstract

Genomic Imprinting

Trisomy

Trophoblastic Neoplasms - pathology

Abortion, Spontaneous - genetics

Humans

Chromosomes, Human, Pair 7

Chromosomes, Human, Pair 2

Pregnancy

Trophoblastic Neoplasms - genetics

Trophoblastic Tumor, Placental Site - genetics

Chromosomes, Human, Pair 15

Placenta - pathology

Abortion, Spontaneous - etiology

Female

Chromosomes, Human, Pair 22

Nondisjunction, Genetic

Trophoblastic Tumor, Placental Site - pathology

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.

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Title: Studies of non-disjunction in trisomies 2, 7, 15, and 22: does the parental origin of trisomy influence placental morphology?
Creators: M V Zaragoza - Department of Genetics and the Center for Human Genetics, Case Western Reserve University, Cleveland, OH 44106, USA
E Millie
R W Redline
T J Hassold
Publication Details: Journal of medical genetics, Vol.35(11), pp.924-931
Academic Unit: Molecular Biosciences, School of
Publisher: England
Identifiers: 99900546849801842
Language: English
Resource Type: Journal article