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 …

Ontogenetic and pathogenetic views on somatic chromosomal mosaicism

IY Iourov, SG Vorsanova, YB Yurov, SI Kutsev - Genes, 2019 - mdpi.com
Intercellular karyotypic variability has been a focus of genetic research for more than 50
years. It has been repeatedly shown that chromosome heterogeneity manifesting as …

Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

H Chai, W Ji, J Wen, A DiAdamo… - American Journal of …, 2020 - Wiley Online Library
Abstract Constitutional ring chromosome 9, r (9), is a rare chromosomal disorder.
Cytogenomic analyses by karyotyping, array comparative genomic hybridization (aCGH) …

[PDF][PDF] Cromosoma 22 en anillo en paciente con trastorno del neurodesarrollo

PT Mendoza, GH Pérez, LM Rosales… - Salud, Ciencia y …, 2023 - researchgate.net
Introducción: Los cromosomas en anillo son un tipo raro de anomalía estructural con
tamaño y contenido genético variable y puede tener su origen en cualquier cromosoma …

Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well‐Differentiated and Dedifferentiated Liposarcoma

H Chai, F Xu, A DiAdamo, B Grommisch… - Case Reports in …, 2022 - Wiley Online Library
Chromosome and array comparative genomic hybridization (aCGH) analyses were
performed on two cases of well‐differentiated liposarcoma (WDLPS) and two cases of …

[HTML][HTML] Chromosomal abnormalities in couples with primary and secondary infertility: genetic counseling for assisted reproductive techniques (ART)

S Poornima, S Daram, RK Devaki… - … of Reproduction & …, 2020 - ncbi.nlm.nih.gov
Background: World Health Organization estimates that 60–80 million couple worldwide
currently suffer from infertility. Recurrent pregnancy loss (RPL) is also another major …

Cytogenomic epileptology

IY Iourov, AP Gerasimov, MA Zelenova… - Molecular …, 2023 - Springer
Molecular cytogenetic and cytogenomic studies have made a contribution to genetics of
epilepsy. However, current genomic research of this devastative condition is generally …

[HTML][HTML] Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective …

R Mazzilli, S Petrucci, V Zamponi… - Journal of Clinical …, 2024 - pmc.ncbi.nlm.nih.gov
Objectives: Evaluate the prevalence of genetic factors in a large population of infertile
subjects and define the seminological, hormonal, and ultrasonographic features for each …

Turner syndrome and neuropsychological abnormalities: a review and case series

BB Guaraná, MR Nunes, VF Muniz, BL Diniz… - Revista Paulista de …, 2024 - SciELO Brasil
Objective: The objective of this study was to establish the genotype-phenotype correlation
between karyotype results and the neurological and psychiatric alterations presented in …

Live‐born autosomal ring chromosomes at the Johns Hopkins Hospital Cytogenomics Laboratory: Case series—Spanning 52 years of experience in a single center

S Kushwaha, V Stinnett, YS Zou… - American Journal of …, 2024 - Wiley Online Library
Ring chromosomes (RCs) are a structural aberration that can be tolerated better in
acrocentric or gonosomal chromosomes. Complete RCs arise from telomere‐telomere …