PMID: 9178319May 1, 1997Paper

Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios

Prenatal Diagnosis
W F HansenD K Kalousek

Abstract

We present a case of maternal uniparental heterodisomy for chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. This case presented prenatally with severe intrauterine growth restriction (IUGR) and oligohydramnios. The diploid newborn had hypospadias and features consistent with oligohydramnios sequence. He died shortly after birth of severe pulmonary hypoplasia. The term placenta had high levels of trisomy 2 in both the trophoblast and the stroma. A comparison of this case with others reported in the literature suggests that the IUGR and oligohydramnios are likely related to placental insufficiency due to the high levels of trisomy 2 present in the trophoblast of the term placenta and the presence of UPD 2 in the diploid placental line.

References

Dec 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·D PinkelJ Gray
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Dec 1, 1994·Prenatal Diagnosis·D K Kalousek, I Barrett
Apr 1, 1995·Human Molecular Genetics·D KotzotM Hergersberg
Mar 15, 1994·American Journal of Medical Genetics·R MantM J Owen
Nov 1, 1995·Journal of Medical Genetics·S LangloisD K Kalousek
Nov 11, 1996·American Journal of Medical Genetics·D K KalousekR D Wilson
Oct 1, 1996·Prenatal Diagnosis·L G ShafferD K Kalousek

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Citations

Mar 7, 2014·Best Practice & Research. Clinical Obstetrics & Gynaecology·Lyn S Chitty
Apr 9, 1999·Archives of Disease in Childhood. Fetal and Neonatal Edition·V S Lestou, D K Kalousek
Nov 13, 2004·Fetal Diagnosis and Therapy·Stavros SifakisEugenios Koumantakis
Nov 18, 2009·Prenatal Diagnosis·Wendy P RobinsonPeter von Dadelszen
Jan 2, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Jun 17, 2008·American Journal of Medical Genetics. Part a·Sibel KantarciBarbara R Pober
Nov 19, 2013·American Journal of Medical Genetics. Part a·Andrea QuintanaRobert J Wallerstein
May 26, 2004·Pediatric Clinics of North America·Utpala G Das, Gregory D Sysyn
Nov 28, 2002·Prenatal Diagnosis·Wendy P RobinsonDagmar K Kalousek
Apr 9, 2008·Prenatal Diagnosis·Eva PajkrtLyn S Chitty
Jun 16, 2005·American Journal of Medical Genetics. Part a·Dieter Kotzot, Gerd Utermann
Jul 8, 2005·American Journal of Medical Genetics. Part a·Natalia V Kovaleva
Dec 9, 2004·European Journal of Human Genetics : EJHG·François M PetitPhilippe Labrune
Apr 1, 1999·Journal of Genetic Counseling·J E Ulm
Apr 17, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Daniela Del GaudioUNKNOWN ACMG Laboratory Quality Assurance Committee
Jan 10, 1998·Trends in Genetics : TIG·L D Hurst, G T McVean
Sep 30, 2021·Molecular Genetics & Genomic Medicine·Lei WangHongzheng Dai

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