A profoundly mentally handicapped woman with a ring chromosome 22

Journal of Mental Deficiency Research
R M VeallP Saldana-Garcia

Abstract

A small thirty-eight-year-old profoundly retarded woman is decribed who has a ring chromosome identified by banding techniques. Details are given of her behaviour, anthropometry, dermatoglyphics, karyotype and biochemistry with extensive investigations of her blood proteins and enzymes. Other described cases of ring 21 and 22 are reviewed. There is so much variability among the ring 22 chromosomes that it is not considered justifiable to speak of a ring 22 syndrome.

References

Mar 26, 1966·Lancet·W S Tulloch, J E Newsam
Mar 4, 1967·Lancet·P F BensonM H Gough
Dec 1, 1973·Developmental Medicine and Child Neurology·A T RundleB Clothier
Mar 30, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·A T Rundle, B Sudell
Mar 1, 1973·Journal of Medical Genetics·R H LindenbaumL Barber
Sep 1, 1965·Immunochemistry·G ManciniJ F Heremans
Jan 1, 1972·Humangenetik·P J ChauvelR J Warren
Jan 1, 1972·Clinical Genetics·B F CrandallJ K Burwell
Jun 1, 1971·Journal of Medical Genetics·N C NevinW A Campbell
Jan 1, 1969·Humangenetik·R ZdanskyG Stalder
Oct 1, 1970·The Journal of Pediatrics·R J Warren, D L Rimoin
Dec 1, 1970·Journal of Medical Genetics·B SayS Balci
Jan 1, 1970·Human Heredity·H WalterJ Nemeskéri
Mar 1, 1969·The Journal of Pediatrics·N D LaestadiusD W Smith
Feb 1, 1969·Archives of Disease in Childhood·D N Challacombe, A Taylor
Jun 1, 1969·Journal of Medical Genetics·C E Blank, J Lorber
Mar 1, 1961·Acta Paediatrica·A F ROCHES SUNDERLAND

❮ 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.

Related Papers

Human Genetics
C Fernández-NovoaH Galera
Journal of Medical Genetics
R HervaL Leikkonen
© 2022 Meta ULC. All rights reserved