Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation

A L Webb; S Sturgiss; P Warwicker; S C Robson; J A Goodship; J Wolstenholme

doi:10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U

Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation

Prenat Diagn. 1996 Oct;16(10):958-62. doi: 10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U.

Authors

A L Webb¹, S Sturgiss, P Warwicker, S C Robson, J A Goodship, J Wolstenholme

Affiliation

¹ Department of Human Genetics, University of Newcastle upon Tyne, U.K.

PMID: 8938070
DOI: 10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U

Abstract

We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal infant demonstrating maternal uniparental disomy for chromosome 2.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amniocentesis / adverse effects
Chorionic Villi Sampling / adverse effects
Chromosome Aberrations
Chromosomes, Human, Pair 2*
Female
Fetal Growth Retardation / genetics*
Fetal Membranes, Premature Rupture / diagnosis
Fetal Membranes, Premature Rupture / etiology
Fundoplication
Gestational Age
Hernia, Hiatal / surgery
Humans
Infant, Newborn
Karyotyping
Maternal Age
Mosaicism*
Placenta*
Pregnancy
Pregnancy, High-Risk
Pyloric Stenosis / congenital
Pyloric Stenosis / surgery
Renal Insufficiency / diagnosis
Renal Insufficiency / surgery
Trisomy*
Ultrasonography, Prenatal