PMID: 3978848Feb 1, 1985Paper

Semiautomated chromosome analysis. A clinical test

Clinical Genetics
J Philip, C Lundsteen

Abstract

An interactive system for semiautomated chromosome analysis, consisting of a high-speed image processor with light-pen, TV monitor and key-board interfaced to a microscope with motorized scanning stage and video-camera and to a hard-copy printer, has been clinically tested for twenty consecutive working days. Metaphase search takes place over night. Identified metaphases are ranked automatically according to their suitability for analysis. Less than every second metaphase found cannot be either counted or analysed. 164 samples were analysed. Only one was not completed. Two numerical and two structural abnormalities were identified and clinical consequences taken. Average time per completed analysis (10 counts, four karyotypes) were 37.5 min (28-84). Average time varied between technicians. In another test including 120 metaphases and 40 karyotypes average time for counting the chromosomes of a metaphase was 37 sec. (28-48), and average time for producing one karyotype, including a hard-copy was 4 min 30 sec (3 min 43 sec-5 min 54 sec). Number of manual interactions was 8 (2-17) and 36 (25-61), respectively. Although improvements are possible, the system is able to at least double the output of four cytogenetic technicians.

References

Oct 29, 1977·British Medical Journal·J PhilipM Madsen
Jul 1, 1983·Prenatal Diagnosis·J PhilipM Madsen

Citations

Jan 1, 1989·American Journal of Medical Genetics·C Lundsteen, A O Martin
Jan 1, 1990·Cytometry·B H MayallI T Young

Related Concepts

Autosome Abnormalities
Karyotype Determination Procedure
Metaphase
Antenatal Screening Procedures
Autosomal Chromosome Disorders

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.

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.

Lipidomics & Rhinovirus Infection

Lipidomics can be used to examine the lipid species involved with pathogenic conditions, such as viral associated inflammation. Discovered the latest research on Lipidomics & Rhinovirus Infection.

Spatio-Temporal Regulation of DNA Repair

DNA repair is a complex process regulated by several different classes of enzymes, including ligases, endonucleases, and polymerases. This feed focuses on the spatial and temporal regulation that accompanies DNA damage signaling and repair enzymes and processes.

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.

Torsion Dystonia

Torsion dystonia is a movement disorder characterized by loss of control of voluntary movements appearing as sustained muscle contractions and/or abnormal postures. Here is the latest research.

Archaeal RNA Polymerase

Archaeal RNA polymerases are most similar to eukaryotic RNA polymerase II but require the support of only two archaeal general transcription factors, TBP (TATA-box binding protein) and TFB (archaeal homologue of the eukaryotic general transcription factor TFIIB) to initiate basal transcription. Here is the latest research on archaeal RNA polymerases.

Alzheimer's Disease: MS4A

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Central Pontine Myelinolysis

Central Pontine Myelinolysis is a neurologic disorder caused most frequently by rapid correction of hyponatremia and is characterized by demyelination that affects the central portion of the base of the pons. Here is the latest research on this disease.