Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation

Prenatal Diagnosis
A L WebbJ Wolstenholme

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.

References

Apr 1, 1992·Computer Applications in the Biosciences : CABIOS·F R RysavyG W Williams
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
Jun 5, 1995·American Journal of Medical Genetics·A N SiakotosF J Van Kuijk
Feb 1, 1994·British Journal of Obstetrics and Gynaecology·L S ChittyS Campbell
Mar 1, 1993·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·S GallivanJ A Spencer

❮ Previous
Next ❯

Citations

Nov 13, 2004·Fetal Diagnosis and Therapy·Stavros SifakisEugenios Koumantakis
Sep 3, 2004·The New England Journal of Medicine·Branimir Catipović
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
Mar 19, 2011·American Journal of Medical Genetics. Part a·Paolo PronteraEmilio Donti
Feb 2, 2010·Prenatal Diagnosis·Stavros SifakisKypros H Nicolaides
Jul 20, 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·Esra TuğAykut Özek
May 29, 2009·Clinical Dysmorphology·Ercan MihciDusica Babovic-Vuksanovic
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
Jul 11, 2012·Nature Reviews. Gastroenterology & Hepatology·Babette PeetersRaoul C M Hennekam
Jan 1, 1997·Journal of Medical Genetics·M A PreeceG E Moore
Apr 1, 1999·Journal of Genetic Counseling·J E Ulm
Mar 5, 2004·Journal of Human Genetics·Yuko KondoShin-Ichi Sonta
Aug 29, 2020·Molecular Cytogenetics·Ting WangLi Guo
Sep 15, 2000·European Journal of Obstetrics, Gynecology, and Reproductive Biology·K Devriendt
Jan 10, 1998·Trends in Genetics : TIG·L D Hurst, G T McVean

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.