Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome

American Journal of Medical Genetics. Part a
P ChiurazziG Neri

Abstract

We report on a boy with Pallister-Killian syndrome (PKS) who was conceived by assisted reproductive technology (ART), specifically in vitro fertilization (IVF) with parents' gametes. A prenatal diagnosis performed elsewhere by CVS failed to detect the presence of the isochromosome 12p that was demonstrated postnatally in approximately 50% of cultured skin fibroblasts. Given that the patient did not show the congenital overgrowth typical of PKS, we speculate that ART might have restricted overgrowth in this particular case. More broadly, we hypothesize that overgrowth might protect from early demise fetuses conceived by ART, a technology known to cause low and very low birth weight.

References

Jun 1, 1987·American Journal of Medical Genetics·J F ReynoldsJ F Jimenez
Jul 28, 1994·The New England Journal of Medicine·P J NeumannM C Weinstein
Mar 8, 2002·The New England Journal of Medicine·Michèle HansenSandra Webb
Mar 8, 2002·The New England Journal of Medicine·Laura A SchieveLynne S Wilcox
May 23, 2002·American Journal of Human Genetics·Gerald F CoxBernhard Horsthemke
Jul 13, 2002·Prenatal Diagnosis·Bérénice DorayElisabeth Flori
Nov 20, 2002·American Journal of Human Genetics·Michael R DeBaunAndrew P Feinberg
Jan 15, 2003·Journal of Medical Genetics·E R MaherM M Hawkins
Jul 18, 2003·The New England Journal of Medicine·Konrad Hochedlinger, Rudolf Jaenisch

❮ Previous
Next ❯

Citations

Oct 1, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Jun 22, 2005·Brain & Development·Yoshiaki SaitoSeiji Kimura
Dec 21, 2017·The Neuroradiology Journal·Emil Jernstedt BarkovichMatthew T Whitehead
Feb 24, 2007·American Journal of Medical Genetics. Part a·M V GomesE S Ramos

❮ 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.