Holoprosencephaly: An update on cytogenetic abnormalities

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Claude BendavidVéronique David

Abstract

Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure of midline cleavage early in gestation. Isolated HPE, which is highly genetically heterogeneous, can be due to major chromosomal abnormalities. Initially, karyotype approach led to the identification of several recurrent chromosomal anomalies predicting different HPE loci. Subsequently, several genes were isolated from these critical HPE regions, but point mutations and deletions in these genes were found only in 25% of the genetic cases. In order to identify other HPE genes, a more accurate investigation of the genome in HPE patients was necessary. To date, high-resolution cytogenetic techniques such as subtelomeric multiplex ligation-dependent probe amplification (MLPA) and microarray-based comparative genomic hybridization (array CGH) have enhanced chromosomal aberration analysis. In this article, we have updated the cytogenetic anomalies associated with HPE in a map listing all the subtelomeric and interstitial deletions that have been characterized either by karyotype, MLPA, or array CGH. The accumulation of recurrent genomic imbalances will lead to the further delineation of minimal critical HPE loci, which i...Continue Reading

References

Aug 23, 1996·American Journal of Medical Genetics·L A CroenE J Lammer
Nov 1, 1996·Nature Genetics·E RoesslerM Muenke
Dec 31, 1997·American Journal of Medical Genetics·C L OlsenM Sharpe-Stimac
Sep 5, 1998·Journal of Inherited Metabolic Disease·E Roessler, M Muenke
Oct 20, 2000·European Journal of Human Genetics : EJHG·L PasquierS Odent
May 9, 2001·American Journal of Medical Genetics·N L LehmanE D Adickes
May 12, 2001·American Journal of Obstetrics and Gynecology·P J BullenS C Robson
Oct 29, 2003·Proceedings of the National Academy of Sciences of the United States of America·Erich RoesslerMaximilian Muenke
Aug 10, 2004·Nature Genetics·Lisenka E L M VissersAd Geurts van Kessel
May 9, 2006·Nature Biotechnology·Stein AertsYves Moreau
Aug 19, 2006·American Journal of Medical Genetics. Part a·Anita RauchUdo Trautmann
Nov 11, 2006·American Journal of Medical Genetics. Part a·Fedik RahimovJeffrey C Murray
Feb 6, 2007·Orphanet Journal of Rare Diseases·Christèle DubourgVéronique David
Aug 9, 2007·Human Mutation·Claude BendavidVéronique David
Oct 3, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·David H Ledbetter, Christa Lese Martin
Oct 3, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Lisa G ShafferBlake C Ballif
May 30, 2008·Nucleic Acids Research·Léon-Charles TrancheventYves Moreau
Jun 7, 2008·American Journal of Medical Genetics. Part a·Marcia J SimovichMarwan Shinawi
Jun 20, 2008·Human Genetics·Nataliya TyshchenkoAlbert Schinzel
Nov 14, 2008·American Journal of Medical Genetics. Part a·Philippe M CampeauMary Ann Thomas
Jun 26, 2009·Molecular Genetics and Metabolism·Erich RoesslerMaximilian Muenke
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Erich Roessler, Maximilian Muenke
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Candice Y Johnson, Sonja A Rasmussen
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Daniel E Pineda-AlvarezMaximilian Muenke
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Benjamin D SolomonMaximilian Muenke
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Benjamin D SolomonMaximilian Muenke

❮ Previous
Next ❯

Citations

Jan 5, 2011·Human Molecular Genetics·Valérie DupéVéronique David
Sep 24, 2011·Journal of Medical Genetics·Sandra MercierSylvie Odent
Aug 13, 2011·The Journal of Clinical Endocrinology and Metabolism·Mark J McCabeMehul T Dattani
Jul 16, 2011·Gene·Renate Marquis-NicholsonDonald R Love
Jan 2, 2013·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping ChenWayseen Wang
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Benjamin D SolomonMaximilian Muenke
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Eric A MillerUNKNOWN National Birth Defects Prevention Study
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sandra MercierSylvie Odent
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Erich Roessler, Maximilian Muenke
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Candice Y Johnson, Sonja A Rasmussen
Mar 22, 2012·Fetal and Pediatric Pathology·Consolato SergiDeepak Kamnasaran
Sep 15, 2014·Human Genetics·Naseebullah KakarGuntram Borck
Feb 7, 2015·PloS One·Charlotte MoudenVéronique David
Jul 2, 2016·Human Mutation·Christèle DubourgVéronique David
Apr 26, 2011·Journal of Child Neurology·Nóra SzabóLászló Sztriha
May 23, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Christèle DubourgValérie Dupé
May 18, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Erich RoesslerMaximilian Muenke
Sep 23, 2010·Current Opinion in Pediatrics·Emily F Kauvar, Maximilian Muenke
Apr 18, 2018·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Yu AbeMaximilian Muenke
Oct 29, 2020·Birth Defects Research·Yonit A AddissiePaul Kruszka
May 26, 2011·Current Opinion in Pediatrics

❮ 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

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Benjamin D SolomonMaximilian Muenke
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Daniel E Pineda-AlvarezMaximilian Muenke
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Erich Roessler, Maximilian Muenke
© 2021 Meta ULC. All rights reserved