Prenatally Diagnosed Rare Trisomy 16 Mosaicism in Human Amniotic Fluid Cells in the Second Trimester: A Case Report

Balsaeng'gwa saengsig
Sook Ryung KimYoung Jin Lee

Abstract

Although trisomy 16 is commonly detected in spontaneous abortions and accounts for over 30% of cases of autosomal trisomy detected after spontaneous abortion, trisomy 16 mosaicism is rarely detected by amniocentesis in the second trimester. Here, we report a case of level III trisomy 16 mosaicism (47,XX,+16[8]/46,XX[31]) diagnosed by cytogenetic analysis of independently cultured amniotic fluid cells. The female baby was delivered at full term with low birth weight and intrauterine growth retardation, and interestingly, her karyotype was normal (46,XX). Given the difficulty in predicting the outcomes of fetuses with this mosaicism, it is recommended to inform the possibility of mosaicisms including this trisomy 16 mosaicism during prenatal genetic diagnosis and genetic counseling for parents.

References

Dec 1, 1992·Prenatal Diagnosis·J G Post, J G Nijhuis
Apr 1, 1989·American Journal of Medical Genetics·M G WilsonF M Kaplan
Mar 8, 2003·Journal of Medical Genetics·P J YongW P Robinson
Mar 25, 2006·Prenatal Diagnosis·Katherine NeiswangerUrvashi Surti
May 10, 2006·Prenatal Diagnosis·Sylvie LangloisWendy P Robinson
May 29, 2008·Journal of Clinical Ultrasound : JCU·Nobuhiro HidakaNorio Wake
Jul 9, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·James T MascarelloUNKNOWN Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
Oct 9, 2013·Journal of Ovarian Research·Ghassan HaddadWeihua Wang
Feb 15, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Francesca R GratiGiuseppe Simoni
May 18, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Anne Mardy, Ronald J Wapner
Apr 7, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Teresa N SparksMary E Norton

❮ 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.