The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes

P Li, B Dupont, Q Hu, M Crimi, Y Shen… - Human Genetics and …, 2022 - cell.com
Human ring chromosomes (RCs) are rare diseases with an estimated newborn incidence of
1/50,000 and an annual occurrence of 2,800 patients globally. Over the past 60 years …

Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

TO Yahaya, EO Oladele, D Anyebe, C Obi… - Bulletin of the National …, 2021 - Springer
Background Much interest has not been placed on the role of chromosomal abnormalities in
the pathogenesis and rising prevalence of infertility in recent times. This review was …

Ring chromosomes: from formation to clinical potential

IE Pristyazhnyuk, AG Menzorov - Protoplasma, 2018 - Springer
Ring chromosomes (RCs) are circular DNA molecules, which occur rarely in eukaryotic
nuclear genomes. Lilian Vaughan Morgan first described them in the fruit fly. Human …

Ring chromosome 20 syndrome: genetics, clinical characteristics, and overlapping phenotypes

A Peron, I Catusi, MP Recalcati, L Calzari… - Frontiers in …, 2020 - frontiersin.org
Ring chromosome 20 [r (20)] syndrome is a rare condition characterized by a non-
supernumerary ring chromosome 20 replacing a normal chromosome 20. It is commonly …

[PDF][PDF] Human ring chromosomes–new insights for their clinical significance

RS Guilherme, E Klein, AB Hamid, S Bhatt… - Balkan Journal of …, 2013 - sciendo.com
Twenty-nine as yet unreported ring chromosomes were characterized in detail by
cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) …

Ring chromosome 15–cytogenetics and mapping arrays: a case report and review of the literature

C Paz-y-Miño, J Guevara-Aguirre, A Paz-y-Miño… - Journal of Medical Case …, 2018 - Springer
Background Ring chromosome 15 has been associated in previous studies with different
clinical characteristic such as cardiac problems, digit and musculoskeletal abnormalities …

A further case of familial ring chromosome 20 mosaicism-molecular characterization of the ring and review of the literature

I Unterberger, J Dobesberger, H Schober… - European Journal of …, 2019 - Elsevier
Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by childhood-
onset drug-resistant epilepsy, behavioral problems and variable cognitive impairment. While …

Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13

M Kaya, I Suer, T Kalayci, B Karaman… - Scottish Medical …, 2022 - journals.sagepub.com
Introduction Ring chromosomes arise from breakage and fusion at distal regions of short
and long arms of the chromosomes. The effect of the ring chromosome on the phenotype …

Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p-and ring chromosome 18

A Chau, KH Ramesh, AD Jagannath… - F1000Research, 2018 - pmc.ncbi.nlm.nih.gov
Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal
arm deletions. It is most commonly presented as a combination of 18p-and distal 18q …

Minichromosomes and artificial chromosomes in Arabidopsis

M Murata - Chromosome research, 2014 - Springer
Minichromosomes have been extensively used as tools for revealing the functional
structures of eukaryotic chromosomes. However, the definition of a minichromosome is still …