Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies

Molecular Cytogenetics
Qiping HuPeining Li

Abstract

Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes. A web-based interactive 'Human Ring Chromosome Registry' using Microsoft Access based relational database was developed to present genetic and phenotypic findings of ring chromosome cases. Chinese ring chromosome cases reported in the literature was reviewed and compiled as a testing data set to validate this registry. A total of 113 cases of ring chromosomes were retrieved in all chromosomes except for chromosomes 16, 17 and 19. The most frequently seen ring chromosomes by a decreasing order of relative frequencies were ring 13 (14%), X (12%), 22 (10%), 15 (9%), 14 (7%), and 18 (7%). Genom...Continue Reading

References

Jul 1, 1991·Human Genetics·G KosztolányiE B Hook
Jan 7, 2004·American Journal of Medical Genetics. Part a·Hui Z ZhangBarbara R Pober
Jun 24, 2004·American Journal of Medical Genetics. Part a·Ying-Hui LinPao-Lin Kuo
Aug 10, 2004·Journal of the American Medical Informatics Association : JAMIA·Joyce A MitchellAlexa T McCray
Jun 28, 2007·PloS One·Yuri B YurovIlia V Soloviev
Dec 23, 2011·BMC Medical Genetics·Roberta S GuilhermeMaria I Melaragno
Feb 4, 2012·American Journal of Medical Genetics. Part a·Ester MargaritAurora Sánchez
Apr 20, 2012·Human Reproduction·Xue JiaoZi-jiang Chen
May 9, 2012·European Journal of Medical Genetics·Marcella ZollinoGiovanni Neri
Jan 30, 2013·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Yuan WeiPeining Li
Apr 6, 2013·Stem Cells and Development·Masood BazrgarHossein Baharvand
May 11, 2013·Genetics and Molecular Research : GMR·P-H SuJ-Y Chen
Nov 23, 2013·Balkan Journal of Medical Genetics : BJMG·Rs GuilhermeT Liehr
Jan 15, 2014·Nature·Marina BershteynAnthony Wynshaw-Boris
Mar 29, 2014·Human Reproduction Update·Tyl H TaylorDarren K Griffin
Nov 8, 2014·Cytogenetic and Genome Research·Julie KaylorYuri A Zarate
Apr 23, 2015·Molecular Cytogenetics·Daniela AlosiNiels Tommerup
May 29, 2015·Nature·Cheng-Zhong ZhangDavid Pellman
Jul 6, 2015·Medical Science Monitor : International Medical Journal of Experimental and Clinical Research·Jinlai MengPeining Li
Sep 1, 2015·Journal of Applied Genetics·Roberta Santos GuilhermeMaria Isabel Melaragno
Oct 8, 2015·Annual Review of Genetics·Mitchell L LeibowitzDavid Pellman
Nov 19, 2015·The New England Journal of Medicine·Ermanno GrecoFrancesco Fiorentino
Dec 22, 2015·Cell·John MaciejowskiTitia de Lange
Sep 23, 2016·Frontiers in Cell and Developmental Biology·Chenghua CuiPeining Li
Nov 5, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kathleen PlonaAnthony Wynshaw-Boris
Nov 7, 2016·Epilepsy Research·Aglaia VignoliMaria Paola Canevini

❮ Previous
Next ❯

Citations

May 22, 2019·Genes·Ivan Y IourovSergei I Kutsev
Sep 3, 2021·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Juan Javier López RiveraMaribel Forero-Castro

❮ Previous
Next ❯

Methods Mentioned

BETA
RSA
chip

Software Mentioned

Microsoft Access
Ensembl Resources
Access

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.