PMID: 8100582May 1, 1993Paper

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation

Journal of Medical Genetics
B A OostraF Rousseau

Abstract

Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG repeat. We present the various alternatives of combinations of probes and enzymes that can be used for the diagnosis of fragile X syndrome. An overview is given of all the different available probes. A different protocol is presented for postnatal and prenatal diagnosis of fragile X syndrome. This includes Southern blot analysis as well as direct analysis of the CGG repeat by PCR amplification. We discuss the role of constitutional cytogenetic analysis in the diagnosis of mentally retarded subjects and cytogenetic analysis for the diagnosis of fragile X syndrome.

References

May 1, 1992·Human Molecular Genetics·G R Sutherland, E Baker
Sep 1, 1992·Human Molecular Genetics·J S SutcliffeS T Warren
Aug 1, 1992·Nature Genetics·A K GedeonG R Sutherland
Feb 1, 1992·Lancet·R G PergolizziW T Brown
Apr 1, 1992·American Journal of Medical Genetics·F RousseauJ L Mandel
Sep 1, 1992·Human Genetics·S H ErsterR G Pergolizzi
Apr 1, 1992·American Journal of Medical Genetics·G J RigginsE Pfendner
Jun 1, 1992·Journal of Medical Genetics·J C MulleyG R Sutherland
Dec 12, 1991·The New England Journal of Medicine·F RousseauM F Croquette
Dec 12, 1991·The New England Journal of Medicine·G R SutherlandS Yu
Feb 1, 1991·American Journal of Medical Genetics·P B JackyS F Hoegerman
May 24, 1991·Science·S YuD Schlessinger

❮ Previous
Next ❯

Citations

May 19, 2005·Journal of Clinical Laboratory Analysis·M Shyla RavindranShiny Babu
Apr 25, 2000·Indian Journal of Pediatrics·A E Donnenfeld
Dec 24, 2011·Genetic Testing and Molecular Biomarkers·Farmaditya E P MundhofirHelger G Yntema
Oct 10, 1997·Journal of Medical Genetics·A A van der RietF F Rutten
Jul 25, 1998·Journal of Medical Genetics·B B de VriesM F Niermeijer
May 6, 1995·Lancet·R WillemsenB Oostra
Jan 16, 2007·Journal of Intellectual Disability Research : JIDR·Y AlanayE Tunçbilek
Jun 12, 1999·American Journal of Human Genetics·R WillemsenB A Oostra
Jun 6, 2006·The Journal of Laboratory and Clinical Medicine·Sandra MonfortFrancisco Martínez
Nov 15, 2000·American Journal of Medical Genetics·E TunçbilekR Willemsen
Aug 9, 1996·American Journal of Medical Genetics·E de GraaffA M van den Ouweland
Jul 14, 2001·American Journal of Medical Genetics·R Willemsen, B A Oostra
Jan 1, 1994·European Journal of Clinical Investigation·F Rousseau
Jul 15, 1994·American Journal of Medical Genetics·D HalleyB Oostra
Jul 15, 1994·American Journal of Medical Genetics·A MaddalenaP N Howard-Peebles
Jul 15, 1994·American Journal of Medical Genetics·A SmitsB van Oost
Jul 15, 1994·American Journal of Medical Genetics·W DeelenB A Oostra
Dec 2, 2009·American Journal of Speech-language Pathology·Jennifer L Flenthrope, Nancy C Brady
Jul 12, 1996·American Journal of Medical Genetics·W T BrownE Jenkins
Jan 1, 1997·Journal of Medical Screening·J MurrayJ Hewison
Feb 22, 2003·Human Genetics·Deepti SharmaB K Thelma
Jun 1, 1997·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·T MariniR Naeem
Jul 12, 1996·American Journal of Medical Genetics·T MazurczakM W Karwacki
Jan 1, 1996·Acta geneticae medicae et gemellologiae·B A Oostra
Mar 21, 2002·Expert Review of Molecular Diagnostics·B A Oostra, R Willemsen
Mar 21, 2002·Expert Review of Molecular Diagnostics·K LowerJ Gecz
Jun 1, 1997·Journal of Inherited Metabolic Disease·A T Hoogeveen, B A Oostra

❮ 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.