Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?

Fertility and Sterility
Fatma FerfouriTal Anahory

Abstract

To examine if a balanced female embryo with X-autosome translocation could, during its subsequent development, express an abnormal phenotype. Preimplantation genetic diagnosis (PGD) analysis on two female carriers with maternal inherited X-autosome translocations. Infertility center and genetic laboratory in a public hospital. Two female patients carriers undergoing PGD for a balanced X-autosome translocations: patient 1 with 46,X,t(X;2)(q27;p15) and patient 2 with 46,X,t(X;22)(q28;q12.3). PGD for balanced X-autosome translocations. PGD outcomes, fluorescence in situ hybridization in biopsied embryos and meiotic segregation patterns analysis of embryos providing from X-autosome translocation carriers. Controlled ovarian stimulation facilitated retrieval of a correct number of oocytes. One balanced embryo per patient was transferred and one developed, but the patient miscarried after 6 weeks of amenorrhea. In X-autosome translocation carriers, balanced Y-bearing embryos are most often phenotypically normal and viable. An ambiguous phenotype exists in balanced X-bearing embryos owing to the X inactivation mechanism. In 46,XX embryos issued from an alternate segregation, der(X) may be inactivated and partially spread transcription...Continue Reading

References

Oct 1, 1990·Human Genetics·E ThermanB Susman
Nov 1, 1990·Journal of Medical Genetics·A Bates, P J Howard
Jan 1, 1988·Cytogenetics and Cell Genetics·B QuackA C Chandley
Apr 1, 1985·American Journal of Medical Genetics·J M CantúH Rivera
Mar 13, 1995·American Journal of Medical Genetics·A S KulharyaJ Garcia-Heras
Jan 1, 1995·Trends in Genetics : TIG·C M Disteche
Jan 11, 1996·Nature·G D PennyN Brockdorff
May 1, 1997·British Journal of Obstetrics and Gynaecology·S D KeayJ M Jenkins
Jun 27, 1997·American Journal of Medical Genetics·J Garcia-HerasS F Witchel
Jan 9, 1998·British Journal of Obstetrics and Gynaecology·A GorgyI L Craft
Apr 25, 2000·Molecular and Cellular Endocrinology·W VegettiP G Crosignani
Jun 17, 2000·Fertility and Sterility·S MunnéJ Cohen
Sep 16, 2000·Molecular and Cellular Endocrinology·J EgozcueF Vidal
Mar 17, 2001·American Journal of Medical Genetics·E Rajcan-SeparovicJ Guscott
Jun 16, 2001·Animal Reproduction Science·P K BasrurP C Popescu
Oct 2, 2001·American Journal of Medical Genetics·A Schinzel, D Niedrist
Sep 5, 2002·American Journal of Medical Genetics·David SchlessingerAntonino Forabosco
Nov 22, 2002·Human Molecular Genetics·Andrew J SharpPatricia A Jacobs
Oct 9, 2003·Journal of Assisted Reproduction and Genetics·Suman LeeKwang-Yul Cha
Apr 22, 2004·Clinical Genetics·L Abrams, P D Cotter
Aug 21, 2004·Human Reproduction Update·Anver Kuliev, Yury Verlinsky
Jul 15, 2005·Expert Review of Molecular Diagnostics·Anver Kuliev, Yury Verlinsky
Aug 30, 2005·Annual Review of Genomics and Human Genetics·Jennifer C ChowCarolyn J Brown
Sep 20, 2005·BJOG : an International Journal of Obstetrics and Gynaecology·S MuttukrishnaP Serhal
Feb 14, 2006·American Journal of Medical Genetics. Part a·Paweł StankiewiczIngo Hansmann

❮ 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.