Nonmosaic smallest duplication of 12q24.31-qter: the first reported case

American Journal of Medical Genetics. Part a
Julie Won IrelandN M Lindor

Abstract

Duplication of the terminal region of the long arm of chromosome 12 is not common. In 13 previous cases, duplication of this region was generally associated with deletions of the derivative chromosomes, larger sized duplications or mosaicism. We have studied a young man with a nonmosaic duplication of 12q24.31-qter translocated to chromosome 5pter. This is the first reported case of pure subtle duplication involving less than two terminal subbands of 12q24.31 to qter. The origin of this genetic material was confirmed by whole chromosome paints and subtelomere specific FISH probes. As both the subtelomere signals for 5p and 12q were present in the der(5) chromosome, it is unlikely that there was any loss of unique DNA sequences from the terminal region of chromosome 5p. This case is compared with 13 other reported cases with a duplication of the 12q terminal segment.

References

Jul 1, 1979·Clinical Genetics·L Hemming, R Brown
Aug 1, 1986·American Journal of Medical Genetics·M M McCorquodaleP Kolacki
Feb 1, 1985·Journal of Medical Genetics·E H TajaraA C Gusson
Apr 1, 1985·Journal of Neurogenetics·E A MacDonald, J J Holden
Sep 1, 1974·Journal of Medical Genetics·N HobolthM Mikkelsen
Sep 1, 1984·Jinrui idengaku zasshi. The Japanese journal of human genetics·A IeshimaY Kuroki
Apr 1, 1981·Journal of Medical Genetics·B Zabel, W Baumann
Jan 1, 1981·American Journal of Medical Genetics·A R MelnykP Jarvi
Dec 1, 1981·Journal of Medical Genetics·S H RobertsL Pavone
Jan 1, 1980·American Journal of Medical Genetics·M J HarrodU Francke
Jan 25, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Syed M JalalVirginia V Michels

❮ Previous
Next ❯

Citations

Nov 19, 2009·American Journal of Medical Genetics. Part a·Irene Mademont-SolerAnna Soler
Jul 16, 2013·European Journal of Medical Genetics·Arjan BoumanTjitske Kleefstra
May 3, 2006·American Journal of Medical Genetics. Part a·S CappellacciP Grammatico
Jan 18, 2006·American Journal of Medical Genetics. Part a·Martine Doco-FenzyMichel Goossens
Feb 6, 2020·Molecular Syndromology·Tatiana Mozer JoaquimLucia R Martelli

❮ 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.