The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes
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 …
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 …
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 …
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 …
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 …
chromosome 4 (RC4) published in the literature. In nine cases, mosaicism for a normal cell …
[PDF][PDF] and Thomas Liehr 8
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 …
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 …
University of Baghdad, Baghdad, Iraq using 21oligozoospermic patients and 21 apparently …
Chromosome Structural Alteration an Unusual Abnormality Characterizing Human Neoplasia
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 …
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