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 …

Ring chromosome 20 syndrome: genetics, clinical characteristics, and overlap** 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 …

Continuing role for classical cytogenetics: case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature

AL Burgemeister, E Daumiller… - American Journal of …, 2017 - Wiley Online Library
Constitutional ring chromosomes can be found for all human chromosomes and are very
rare chromosomal abnormalities. A complete ring chromosome without loss of genetic …

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 …

Ring Chromosome 4

KM Bone, J Chernos, MA Thomas - … : A Practical Guide for Clinicians and …, 2024 - Springer
We describe the cytogenomic and clinical characteristics of 47 individuals of ring
chromosome 4 (RC4) published in the literature. In nine cases, mosaicism for a normal cell …

[PDF][PDF] and Thomas Liehr 8

P Li, B Dupont, Q Hu, M Crimi, Y Shen, I Lebedev - 2022 - researchgate.net
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 …

EXPRESSION OF MISMATCH REPAIR GENE (MLH1) AND SOME OXIDATIVE STRESS INDICATORS IN IRAQI OLIGOZOOSPERMIC PATIENTS.

ZA Kadhim, IA Abdul-Hassan - Biochemical & Cellular …, 2020 - search.ebscohost.com
This study was conducted in the Institute of Genetic Engineering and Biotechnology,
University of Baghdad, Baghdad, Iraq using 21oligozoospermic patients and 21 apparently …

Chromosome Structural Alteration an Unusual Abnormality Characterizing Human Neoplasia

A Movafagh, M Hashemi, AH Pour… - Novelty in …, 2016 - journals.sbmu.ac.ir
Abstract Background and Aim: Ring chromosomes are rare cytogenetic abnormalities that
occur in less than 10% of hematopoietic malignancies. They are rare in blood disorder. The …

[CYTOWANIE][C] 以身材矮小为突出表现的环状 4 号染色体 1 例报告及文献复**# br

刘**军, 吴蔚, 董关萍 - 临床儿科杂志, 2018