Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

American Journal of Medical Genetics. Part a
Anne-Marie BisgaardFlemming Skovby

Abstract

The detection of chromosomal abnormalities in patients with mental retardation (MR) and dysmorphic features increases with improvements of molecular cytogenetic methods. We report on six patients referred for detailed characterization of chromosomal abnormalities (four translocations, one inversion, one deletion) detected by conventional cytogenetics, in whom metaphase CGH revealed imbalances not involved in the initially detected rearrangements. The detected abnormalities were validated by real-time PCR. Parents were investigated by CGH in four cases. The genomic screening revealed interstitial deletions of 2q33.2-q34, 3p21, 4q12-q13.1, 6q25, 13q22.2-q31.1, and 14q12. The estimated minimum sizes of the deletions ranged from 2.65 to 9.27 Mb. The CGH assay did not reveal imbalances that colocalized with the breakpoints of the inversion or the translocations. The deletion of 6q included ESR1, in which polymorphisms are associated with variation of adult height. FOXG1B, known to be involved in cortical development, was located in the 14q deletion. The results illustrate that whole-genome molecular cytogenetic analysis of phenotypically affected patients with abnormal conventional karyotypes may detect inapparent molecular cytogene...Continue Reading

References

Oct 6, 2000·Pediatric Neurology·G P RamelliH Moser
Nov 6, 2001·Journal of Medical Genetics·M KirchhoffC Lundsteen
Feb 1, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jie Xu, Zhong Chen
Jan 6, 2004·Science·Carina HanashimaGord Fishell
Jan 13, 2004·The Journal of Clinical Endocrinology and Metabolism·Stephanie C E SchuitHuibert A P Pols
Mar 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Caroline AstburyStuart Schwartz
Jul 27, 2004·Science·Jonathan SebatMichael Wigler
Aug 3, 2004·Nature Genetics·A John IafrateCharles Lee
Nov 16, 2004·Neuroscience Letters·Raquel RabionetMargaret A Pericak-Vance
May 17, 2005·Nature Genetics·Eray TuzunEvan E Eichler
May 27, 2005·American Journal of Human Genetics·Andrew J SharpEvan E Eichler
Jul 26, 2005·Human Genetics·Roberto CicconeElena Rossi

❮ Previous
Next ❯

Citations

Jul 23, 2009·European Journal of Human Genetics : EJHG·Francois Dominique JacobFrancois V Bolduc
Aug 26, 2010·European Journal of Human Genetics : EJHG·Nicola Brunetti-PierriPawel Stankiewicz
Jun 29, 2012·European Journal of Human Genetics : EJHG·Lila AllouChristophe Philippe
Sep 13, 2012·European Journal of Human Genetics : EJHG·Carolyn J EllawayJohn Christodoulou
Sep 3, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jill A RosenfeldLisa G Shaffer
Nov 11, 2008·Journal of Translational Medicine·Astrid RohrbeckUlrich-Peter Rohr
Jul 4, 2012·Indian Journal of Human Genetics·Thilini H GamageVajira H W Dissanayake
Aug 25, 2010·Neurogenetics·Tangui Le GuenThierry Bienvenu
Oct 22, 2013·Brain & Development·Akira KumakuraDaisuke Hata
Sep 15, 2015·American Journal of Medical Genetics. Part a·Kelly Q McMahonAlex R Paciorkowski
Jun 15, 2010·European Journal of Medical Genetics·Antoinet C J GijsbersClaudia A L Ruivenkamp
Feb 9, 2010·The Journal of Pediatrics·Jeroen BreckpotKoenraad Devriendt
Mar 24, 2009·European Journal of Medical Genetics·Maria Antonietta MencarelliAlessandra Renieri
Dec 28, 2007·Journal de gynécologie, obstétrique et biologie de la reproduction·O PiconeG Tachdjian
May 15, 2009·American Journal of Medical Genetics. Part a·Marcella ZollinoGiovanni Neri
Jul 16, 2008·American Journal of Medical Genetics. Part a·Filomena Tiziana PapaAlessandra Renieri
Jun 6, 2014·American Journal of Medical Genetics. Part a·Vera Ayres MeloniMaria Isabel Melaragno
Aug 30, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Tomoki KoshoJohn C Carey
May 25, 2010·American Journal of Human Genetics·Bernard ThienpontLars Allan Larsen
Apr 23, 2015·American Journal of Medical Genetics. Part a·Dae-Hyun JangMyungshin Kim
Jul 4, 2015·American Journal of Medical Genetics. Part a·Karin WeissDenise A S Batista
Jan 1, 2018·European Journal of Human Genetics : EJHG·Mana M MehrjouyNiels Tommerup
May 4, 2017·American Journal of Medical Genetics. Part a·Andrew ChengYajuan J Liu
Jul 1, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Diana MitterKnut Brockmann
Dec 12, 2019·Frontiers in Pediatrics·Nuwan C Hettige, Carl Ernst

❮ 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.

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.

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.

Epigenetics Insights from Twin Studies

Find the latest research on epigenetics and twin studies 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.

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.

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.

Regulation of Vocal-Motor Plasticity

Dopaminergic projections to the basal ganglia and nucleus accumbens shape the learning and plasticity of motivated behaviors across species including the regulation of vocal-motor plasticity and performance in songbirds. Discover the latest research on the regulation of vocal-motor plasticity here.

Myocardial Stunning

Myocardial stunning is a mechanical dysfunction that persists after reperfusion of previously ischemic tissue in the absence of irreversible damage including myocardial necrosis. Here is the latest research.