PMID: 8445626Feb 1, 1993Paper

Chromosome 20 long arm deletion in an elderly malformed man

Journal of Medical Genetics
F ShabtaiJ Grinblat

Abstract

A 46,XY/46,XY,del(20)(q13-->q13.33) mosaicism was identified in a 68 year old man who had mild mental retardation and severe malformation of the limbs. The clinical findings of the patient are compared to those of the very few cases of 20q deletion published to date.

References

Feb 1, 1988·Clinical Genetics·P Kiss, M Osztovics
Jun 1, 1987·Journal of Medical Genetics·B PorfirioB Dallapiccola
Feb 19, 1972·Lancet·M Ahmed
May 1, 1980·Clinical Genetics·M G WilsonI Forsman

❮ Previous
Next ❯

Citations

May 1, 1994·Mammalian Genome : Official Journal of the International Mammalian Genome Society·P LaurentW Rostene
Jun 6, 2009·Italian Journal of Pediatrics·Elga F BelligniMargherita Cirillo Silengo
Jan 13, 2015·American Journal of Medical Genetics. Part a·Guillaume JedraszakGilles Morin
Jan 25, 2014·American Journal of Medical Genetics. Part a·Renata PosmykBeata Anna Nowakowska
Mar 13, 2015·Journal of Human Genetics·Meena BalasubramanianMichael James Parker
Jul 21, 2004·American Journal of Medical Genetics. Part a·Amy E RobertsMira Irons
Jul 17, 2007·American Journal of Medical Genetics. Part a·M Anwar Iqbal, Mohammad Al-Owain
Sep 15, 2005·American Journal of Medical Genetics. Part a·Azarnouche ArdalanSylvie Girard-Orgeolet
Oct 31, 2002·American Journal of Medical Genetics·Micheala A AldredLouise Brueton

❮ 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.