Analysis of nine pregnancies with confined placental mosaicism for trisomy 2

Prenatal Diagnosis
L G ShafferD K Kalousek

Abstract

Karyotypically normal fetuses with completely trisomic or mosaic placentae may be at increased risk for intrauterine growth restriction (IUGR). Molecular and cytogenetic analyses on nine pregnancies with confined placental mosaicism (CPM) for trisomy 2 were performed at two collaborating centres. Seven cases were identified through prenatal testing of chorionic villi (CVS). Two of these seven cases demonstrated complete trisomy 2 while the remaining five cases showed various levels of trisomy 2 (33 per cent-75 per cent cells). Two cases identified after IUGR was observed in newborn infants demonstrated 65 per cent and 100 per cent trisomy 2 in cultured villi from term placentae. In all nine cases, blood chromosome analysis (n = 4), chromosome analysis of amniotic fluid cultures (n = 4), and cultured amnion (n = 5) were normal, failing to demonstrate any trisomic cells in tissues of fetal origin. Molecular studies on the fetal or newborn tissues using dinucleotide repeat polymorphisms on chromosome 2 revealed normal biparental inheritance of chromosome 2 in all nine cases. The parental origin studies of the extra chromosome 2 in the placenta showed that three cases were maternal in origin, at least two of which were consistent w...Continue Reading

References

Feb 1, 1992·Journal of Bioenergetics and Biomembranes·V D De Pinto, F Palmieri
May 1, 1992·Prenatal Diagnosis·D H LedbetterK L Copeland
Mar 1, 1992·Human Genetics·D K KalousekA B Gärtner
Mar 23, 1991·Lancet·S MalcolmM E Pembrey
Mar 1, 1991·Journal of Medical Genetics·T J HassoldN Takaesu
Jan 1, 1990·Pediatric Pathology·D K Kalousek
Dec 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·D PinkelJ Gray
Jan 1, 1984·Annual Review of Genetics·T J Hassold, P A Jacobs
Jan 1, 1980·American Journal of Medical Genetics·E Engel
Sep 1, 1993·American Journal of Medical Genetics·L G ShafferD H Ledbetter
Apr 1, 1993·Prenatal Diagnosis·N Morichon-DelvallezM Vekemans
Nov 1, 1995·Journal of Medical Genetics·S LangloisD K Kalousek

❮ Previous
Next ❯

Citations

Jan 2, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Feb 2, 2010·Prenatal Diagnosis·Stavros SifakisKypros H Nicolaides
Sep 5, 2002·American Journal of Medical Genetics·Dieter Kotzot
Nov 28, 2002·Prenatal Diagnosis·Wendy P RobinsonDagmar K Kalousek
Aug 9, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Francesca Romana GratiFederico Prefumo

❮ 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.