PMID: 8541876Jan 1, 1995Paper

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

Human Molecular Genetics
D H Ledbetter, E Engel

Abstract

Uniparental disomy (UPD) in humans is caused primarily by meiotic nondisjunction events, followed by trisomy or monosomy 'rescue'. The majority of cases appear to be associated with advanced maternal age, and may be initially detected as mosaic trisomies during routine prenatal diagnosis by chorionic villus sampling or amniocentesis. In addition, structural abnormalities including Robertsonian translocations, reciprocal translocations and supernumerary marker chromosomes appear to be associated with an increased risk of UPD. Predicting the phenotypic effects of UPD is complex, as three independent factors are involved: (i) effects of trisomy on the placenta or the fetus; (ii) autosomal recessive disease due to reduction to homozygosity; and (iii) imprinted gene effects for some chromosomes. To date, UPD in humans has been reported for 25 of the 47 possible uniparental types. Imprinting effects have been established with certainty for four human chromosomes that have homology to mouse chromosomes which have been shown to have significant phenotypic effects in uniparental animals. A normal phenotype has been reported for 14 other UPD types. Thus, collection of data on UPD cases in humans is providing an imprinting map analogous t...Continue Reading

Citations

Aug 1, 1996·Prenatal Diagnosis·U TantravahiP Benn
Jan 1, 1996·Annual Review of Genetics·M Lalande
Dec 1, 1996·The Japanese Journal of Human Genetics·N Niikawa
Sep 1, 1996·Prenatal Diagnosis·W P RobinsonA Schinzel
May 1, 1997·Journal of Medical Genetics·D CatchpooleE R Maher
Mar 1, 1997·Prenatal Diagnosis·P A Mowery-RushtonW A Hogge
Jan 1, 1997·Acta geneticae medicae et gemellologiae·B DallapiccolaG Novelli
Mar 17, 1999·American Journal of Medical Genetics·P K RoganH H Punnett
Jul 8, 1999·Proceedings of the National Academy of Sciences of the United States of America·N J SmilinichM J Higgins
Aug 17, 1999·American Journal of Medical Genetics·S UeharaA Yajima
Dec 10, 1999·American Journal of Medical Genetics·E G Lemire, S Cardwell
Apr 11, 2000·American Journal of Medical Genetics·J KohlhaseI Bartels
May 8, 2000·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·W P Robinson
Sep 22, 2000·The Journal of Clinical Endocrinology and Metabolism·B ChávezF Vilchis
Sep 5, 2002·Prenatal Diagnosis·Shira SilversteinDvorah Abeliovich
Aug 12, 2003·American Journal of Medical Genetics. Part a·Natalia V Kovaleva, Lisa G Shaffer
Nov 25, 2003·Prenatal Diagnosis·Fady K ColladoAllan T Bombard
Jan 19, 2006·European Journal of Human Genetics : EJHG·Francesca R GratiGiuseppe Simoni
Aug 12, 2006·Clinical and Experimental Dermatology·G W M Millington
Sep 15, 2010·European Journal of Endocrinology·Eduardo Fernández-RebolloGuiomar Pérez de Nanclares
Jul 12, 2011·Journal of Assisted Reproduction and Genetics·Kim Dao LyZsolt Peter Nagy
May 27, 1997·Proceedings of the National Academy of Sciences of the United States of America·V G DyominR S Chaganti
Jan 1, 1997·Human Mutation·B HorsthemkeK Buiting
Jun 22, 2000·Prenatal Diagnosis·A H NassarD Martin
Dec 11, 1996·American Journal of Medical Genetics·A S SchneiderL G Shaffer
Oct 20, 2000·American Journal of Medical Genetics·Y ChanR Wallerstein
Jan 1, 1996·Environmental and Molecular Mutagenesis·D Warburton, A Kinney
Jan 8, 1999·American Journal of Medical Genetics·W T HsuR R Schreck
Feb 13, 2002·European Journal of Human Genetics : EJHG·B FritzH Rehder
Sep 30, 2005·Cytogenetic and Genome Research·U A Mau-Holzmann
Mar 15, 2006·Nature Reviews. Genetics·Stylianos E Antonarakis, Jacques S Beckmann

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