Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult

American Journal of Medical Genetics
P R PapenhausenB G Kousseff

Abstract

Uniparental disomy (UPD) of a number of different chromosomes has been found in associated with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14 translocation. The baby was born prematurely with hairy forehead, retrognathia, mild puckering of the lips and finger contractures. Hypotonia has persisted since birth and at age one year, a tracheostomy for laryngomalacia and gastrostomy for feeding remain necessary. Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes at D14S22 and D14S13 loci indicated paternal uniparental isodisomy (pUPID). Parental chromosomes were normal. We also report on a case of maternal UPD in a normal patient with a balanced Robertsonian 14:14 translocation and a history of multiple miscarriages. Five previous reports of chromosome 14 UPD suggest that an adverse developmental effect may be more severe whenever the UPD is paternal in origin. This is the second reported patient with patern...Continue Reading

References

Apr 1, 1976·Journal of Medical Genetics·C J Hawkey, A Smithies
Mar 23, 1991·Lancet·S MalcolmM E Pembrey
Aug 1, 1991·Journal of Medical Genetics·I K TempleP Jacobs
Dec 1, 1989·Human Genetics·M GrassoF Dagna Bricarelli
May 1, 1989·Annals of Human Genetics·A G SearleV J Buckle
Jul 1, 1983·Analytical Biochemistry·A P Feinberg, B Vogelstein
Jan 1, 1980·American Journal of Medical Genetics·E Engel
Jun 1, 1994·American Journal of Medical Genetics·S HealeyJ McGill
Jul 1, 1993·American Journal of Medical Genetics·E Engel

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Citations

Jul 27, 1999·Prenatal Diagnosis·A RalphH R Slater
Feb 23, 2012·European Journal of Human Genetics : EJHG·Masayo KagamiTsutomu Ogata
Mar 29, 2007·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping Chen
Jan 25, 2005·Pediatric Neurology·Marni J FalkStuart Schwartz
Feb 18, 2003·The Journal of Clinical Investigation·Kichoon LeeHei Sook Sul
Dec 10, 1999·American Journal of Medical Genetics·E G Lemire, S Cardwell
Dec 2, 1996·American Journal of Medical Genetics·P R PapenhausenV P Johnson
May 2, 1997·American Journal of Medical Genetics·P D CotterK Hirschhorn
Apr 23, 1999·American Journal of Medical Genetics·M J BerendsN Sorgedrager
Oct 23, 1997·American Journal of Medical Genetics·M P Splitt, J A Goodship
Dec 2, 1996·American Journal of Medical Genetics·W P Robinson, S Langlois
Apr 27, 2004·American Journal of Medical Genetics. Part a·Cathy ChuElizabeth McPherson
Sep 16, 2004·American Journal of Medical Genetics. Part a·David A StevensonNicola Longo
Aug 12, 2003·American Journal of Medical Genetics. Part a·Natalia V Kovaleva, Lisa G Shaffer
Aug 22, 1997·American Journal of Medical Genetics·N H RobinD J Wolff
Feb 1, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Agatino Battaglia, John C Carey
Sep 6, 2001·Genesis : the Journal of Genetics and Development·A J VillarC J Epstein
Jun 20, 2003·Human Mutation·S K MurphyR L Jirtle
Jul 13, 2002·American Journal of Medical Genetics·Clara D M van KarnebeekRaoul C M Hennekam
Jul 11, 1997·American Journal of Medical Genetics·M Gunay-AygunS B Cassidy
May 23, 2006·Prenatal Diagnosis·Logos CurtisSiv Fokstuen
Aug 15, 2006·American Journal of Medical Genetics. Part a·Diana MitterGabriele Gillessen-Kaesbach
Aug 21, 2007·American Journal of Medical Genetics. Part a·Joerg MattesMatthew Edwards
Nov 3, 2007·American Journal of Medical Genetics. Part a·Natalia V Kovaleva
May 12, 2005·American Journal of Medical Genetics. Part a·Stefan AretzThomas Eggermann
Jun 16, 2005·American Journal of Medical Genetics. Part a·Dieter Kotzot, Gerd Utermann
Jun 30, 2005·Animal Health Research Reviews·Marie-Claude St-LouisDenis Archambault
Nov 10, 2005·American Journal of Medical Genetics. Part a·Chih-Ping ChenWayseen Wang
Nov 1, 1996·Clinical Genetics·M L PotE J Breslau-Siderius
Jul 13, 2002·American Journal of Medical Genetics·Kenji KurosawaGen Nishimura
Apr 1, 1999·Journal of Genetic Counseling·J E Ulm

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