PMID: 7334508Dec 1, 1981Paper

Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5)

Journal of Medical Genetics
S GilgenkrantzM J Gregoire

Abstract

Five members of our study family were carriers of a balanced insertion (10;5) (q22;q13;q22). One of the children had psychomotor retardation and malformations resulting from a partial trisomy of the proximal long arm of chromosome 5, having received the maternal der(10). Amniocentesis identified another case of partial proximal trisomy in a fetus of a subsequent pregnancy. This clinical and family study is compared with two other published cases of proximal trisomy 5q.

Citations

Nov 1, 2007·European Journal of Human Genetics : EJHG·Barbara R MigeonPatricia A Jacobs
Feb 24, 2010·Clinical Dysmorphology·Siddharth BankaJill Clayton-Smith
Aug 1, 1993·Acta Paediatrica Japonica; Overseas Edition·T NakayamaS Kamoshita
Apr 1, 1988·Archives of Disease in Childhood·A C Elias-JonesL J Butler
Mar 1, 1987·Journal of Medical Genetics·D KumarC E Blank
Jul 23, 2011·European Journal of Medical Genetics·Diana ZahnleiterChristian T Thiel
Mar 14, 2002·American Journal of Medical Genetics·Brynn LevyNataline B Kardon
Feb 5, 1998·American Journal of Medical Genetics·S Y LiT L Yang-Feng
May 8, 1999·American Journal of Medical Genetics·D MowatA Smith
Sep 17, 2004·American Journal of Medical Genetics. Part a·Y H J M ArensC T R M Schrander-Stumpel
Jun 14, 2006·American Journal of Medical Genetics. Part a·Chih-Ping ChenWayseen Wang
Jan 1, 1985·American Journal of Medical Genetics·N J MartinP J Harvey
Dec 1, 1984·American Journal of Medical Genetics·M I EvansJ W Larsen
Jun 1, 1989·American Journal of Medical Genetics·M Y YipP R Lam-Po-Tang
Jan 27, 2010·American Journal of Medical Genetics. Part a·Ying S ZouJeff M Milunsky
Apr 8, 2006·Birth Defects Research. Part A, Clinical and Molecular Teratology·Jaclyn DouyardVirginia Kimonis
Aug 1, 1985·Clinical Genetics·G I LazjukT I Ostrovskaya
Jan 1, 1984·Clinical Genetics·M J van de VoorenM J Timmerman
Apr 28, 2000·Acta geneticae medicae et gemellologiae·A KriplaniK Kucheria
Oct 26, 2000·American Journal of Medical Genetics·D N AbueloH F Mark

❮ 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.