PMID: 8592330Nov 1, 1995Paper

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7

Journal of Medical Genetics
S LangloisD K Kalousek

Abstract

The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation could not be excluded as the cause of the growth failure as in all cases isodisomy rather than heterodisomy for chromosome 7 was present. We report a case of prenatal and postnatal growth retardation associated with a prenatal diagnosis of mosaicism for trisomy 7 confined to the placenta. DNA typing of polymorphic markers on chromosome 7 has established that the zygote originated as a trisomy 7 with two maternal and one paternal chromosomes 7 with subsequent loss of the paternal chromosome resulting in a disomic child with maternal heterodisomy for chromosome 7. The growth failure seen in this child with heterodisomy 7 lends strong support to the hypothesis of imprinted gene(s) on chromosome 7.

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Citations

Oct 1, 1996·Prenatal Diagnosis·L G ShafferD K Kalousek
Nov 28, 2002·Prenatal Diagnosis·Wendy P RobinsonDagmar K Kalousek
Jan 10, 1998·Trends in Genetics : TIG·L D Hurst, G T McVean
May 26, 2005·European Journal of Human Genetics : EJHG·Elisabeth FloriVéronique Pingault
May 1, 1997·Human Molecular Genetics·S KobayashiF Ishino
Apr 9, 1999·Archives of Disease in Childhood. Fetal and Neonatal Edition·V S Lestou, D K Kalousek
Jul 1, 1996·Journal of Medical Genetics·D K Kalousek, M Vekemans
Jan 1, 1997·Journal of Medical Genetics·M A PreeceG E Moore
Dec 19, 2001·Journal of Medical Genetics·M P HitchinsG E Moore
Jan 6, 2006·Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology·Thomas EggermannHartmut A Wollmann
Jan 5, 2007·European Journal of Pediatrics·Dieter Kotzot
Aug 23, 2006·Clinical Genetics·M-P ReboulA Iron
Jun 1, 1997·American Journal of Obstetrics and Gynecology·J D Goldberg, M M Wohlferd
Jun 19, 1998·American Journal of Human Genetics·Y PanW J Craigen
Oct 11, 2016·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Deepak SharmaSweta Shastri
Jun 27, 1997·American Journal of Medical Genetics·V WooJ S Bamforth
Apr 11, 2000·American Journal of Medical Genetics·U HehrS Brömme
Jul 13, 2014·American Journal of Clinical Pathology·Fatma AbdelhediJean-Michel Dupont
Feb 28, 2003·American Journal of Medical Genetics. Part a·Karl Y Bilimoria, Jeffrey M Rothenberg
Jul 11, 1997·American Journal of Medical Genetics·M Gunay-AygunS B Cassidy
Dec 26, 2001·American Journal of Medical Genetics·S KobayashiF Ishino
Oct 16, 2007·American Journal of Medical Genetics. Part a·Cedric Le CaignecAlbert David
Nov 11, 1996·American Journal of Medical Genetics·D K KalousekR D Wilson
Jun 16, 2005·American Journal of Medical Genetics. Part a·Dieter Kotzot, Gerd Utermann
Jun 21, 2005·Pediatric Pulmonology·Samatha SonnappaColin Wallis
Jul 8, 2005·American Journal of Medical Genetics. Part a·Natalia V Kovaleva
Nov 23, 2005·Prenatal Diagnosis·Chih-Ping ChenWayseen Wang
Oct 22, 2002·Journal of Pediatric Endocrinology & Metabolism : JPEM·Daniela LarizzaFrancesca Severi
May 4, 2021·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Yun ChenHongwei Wei

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