title: Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation.
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.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, U.K.
authors.forename: A L
authors.initials: AL
authors.lastname: Webb
authors.forename: S
authors.initials: S
authors.lastname: Sturgiss
authors.forename: P
authors.initials: P
authors.lastname: Warwicker
authors.forename: S C
authors.initials: SC
authors.lastname: Robson
authors.forename: J A
authors.initials: JA
authors.lastname: Goodship
authors.forename: J
authors.initials: J
authors.lastname: Wolstenholme
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000009:adverse effects; D015193:Chorionic Villi Sampling / Q000009:adverse effects; D002869:Chromosome Aberrations; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005322:Premature Rupture of Fetal Membranes / Q000175:diagnosis / Q000209:etiology; D018662:Fundoplication; D005865:Gestational Age; D006551:Hernia, Hiatal / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008423:Maternal Age; D009030:Mosaicism; D010920:Placenta; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011707:Pyloric Stenosis / Q000151:congenital / Q000601:surgery; D051437:Renal Insufficiency / Q000175:diagnosis / Q000601:surgery; D014314:Trisomy; D016216:Ultrasonography, Prenatal