PMID: 42576Nov 1, 1979

Variable X chromosomal abnormalities in patients with stigmata of Turner syndrome

International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics
R S VermaH Dosik

Abstract

Four cases with suspected sex chromosomal abnormalities and clinical features and endocrine data typical of Turner syndrome are presented. Chromosome preparations made from skin fibroblasts and peripheral blood and multiple banding techniques employed to map the genes of their X chromosomes showed variable results. A review of the literature also revealed conflicting findings regarding the mapping of genes on the X chromosome. Despite different cytogenetic findings, the clinical features of the four cases presented were quite similar.

References

Aug 1, 1984·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·J A PortuondoA Uribarren

Citations

Mar 1, 1976·Canadian Journal of Genetics and Cytology. Journal Canadien De Génétique Et De Cytologie·R S Verma, H A Lubs
Feb 16, 1978·Human Genetics·C T RubensteinH Dosik
Jul 7, 1976·Human Genetics·L I BaranovskayaT G Tsvetkova
Mar 12, 1976·Human Genetics·M Bartsch-SandhoffW Scholz
Jan 1, 1975·Hereditas·A de la ChapelleP Aro
Apr 15, 1976·Human Genetics·P KaiserE Daume
Sep 21, 1972·The New England Journal of Medicine·R BoyarL Hellman
Jan 1, 1974·Clinical Genetics·G E SartoK Patau

Related Concepts

Chromosome Banding
Cytogenetics
Specimen Type - Fibroblasts
Peripheral Blood
Gonadal Dysgenesis,45, X
Sex Chromosomes
Sex Chromosome Aberrations
Genome Mapping
X Chromosome
Autosome Abnormalities

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.

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.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. 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.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.