A study of females with deletions of the short arm of the X chromosome

Human Genetics
R S JamesP A Jacobs

Abstract

We have undertaken a clinical and molecular study of 25 females with deletions of the short arm of the X chromosome. We have determined the deletion breakpoints, the parental origin and the activation status of the deleted X chromosomes. Genotype-phenotype correlations suggest that the presence of a single copy of the DFFRX gene, previously postulated as a gene involved in the ovarian failure seen in Turner syndrome, may be compatible with normal ovarian function, and that there may be a gene for Turner-like features located in distal Xp22.3.

Citations

Oct 19, 2002·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Megan E BaldwinMarc G Achen
Dec 8, 2011·Endocrine·Christian TrolleClaus H Gravholt
Jan 5, 2002·Annales de génétique·V M Mesa-CornejoS Kofman
Jan 5, 2000·Clinical Endocrinology·R M DavisonG S Conway
Jan 15, 2005·Lymphatic Research and Biology·Andrew An, Stanley G Rockson
Feb 24, 2000·Archives of Disease in Childhood·D H Skuse
Feb 18, 2006·Cytogenetic and Genome Research·C OrellanaF Prieto
Sep 12, 2012·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·L De LorenziP Parma
Mar 6, 2004·Annals of the New York Academy of Sciences·David SkuseKate Lawrence
May 15, 2009·American Journal of Medical Genetics. Part a·Marwan ShinawiFernando Scaglia
Apr 8, 2014·Frontiers in Neuroendocrinology·Sara M Schaafsma, Donald W Pfaff
Sep 22, 2011·Clinical Genetics·A Guilmatre, A J Sharp
May 15, 2012·American Journal of Medical Genetics. Part a·Sung Yoon ChoDong-Kyu Jin
Apr 29, 2010·American Journal of Medical Genetics. Part a·Alzbeta VaznaZdenek Sedlacek
Aug 10, 2000·American Journal of Human Genetics·J L RossA R Zinn
Jul 9, 2016·Journal of Assisted Reproduction and Genetics·Pooja ChauhanAmit Kumar Rai
Mar 16, 2017·Reproduction : the Official Journal of the Society for the Study of Fertility·Ikko Kawashima, Kazuhiro Kawamura
Jun 24, 2004·American Journal of Medical Genetics. Part a·N Simon ThomasBruce Castle
Apr 25, 2014·Nature·Daniel W BellottDavid C Page
Mar 23, 2000·American Journal of Medical Genetics·J L Simpson, A Rajkovic
Dec 13, 2007·American Journal of Medical Genetics. Part a·Ayla GüvenGülsen Okten
Apr 6, 2005·Human Molecular Genetics·David H Skuse
Nov 10, 2001·The Journal of Clinical Endocrinology and Metabolism·T OgataK Tachibana
Aug 20, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Rakhi MalhotraRajesh Khadgawat
Mar 5, 1999·Acta Odontologica Scandinavica·S Pirinen
Oct 26, 2000·American Journal of Medical Genetics·D N AbueloH F Mark

❮ 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.