ArticlePloS one2015
Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 56 citations in OpenAlex.
- Beyond inversions and deletions: the evolutionary and functional insights from translocations, fissions, and fusions in animal genomes.Heredity · 2026Review
- Complete genomes of a multi-generational pedigree to expand studies of genetic and epigenetic inheritance.bioRxiv : the preprint server for biology · 2025Article
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
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- Article
- Karyotypic analysis of 62,587 Han Chinese infertile couples undergoing assisted reproductive technology treatments: insights into chromosomal variations.BMC genomics · 2025Observational
- A working model for the formation of Robertsonian chromosomes.Journal of cell science · 2024Article
- A Retrospective Analysis of Robertsonian Translocations from a Single Center in China.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- Article
- Pregnancy-Related Extracellular Vesicles Revisited.International journal of molecular sciences · 2021Review
- Prevalence and Phenotypic Impact of Robertsonian Translocations.Molecular syndromology · 2021Review
- How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?Cellular and molecular life sciences : CMLS · 2020Review
- Review
- Study of Spectrum of Chromosomal Rearrangements in Recurrent Pregnancy Loss.Journal of obstetrics and gynaecology of India · 2020Article
- Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome.Journal of assisted reproduction and genetics · 2020Article
- Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study.American journal of epidemiology · 2019Article
- Non-Robertsonian translocations involving chromosomes 13, 14, or 15 in male infertility: 28 cases and a review of the literature.Medicine · 2019Article
- The effect of Robertsonian translocations on the intranuclear positioning of NORs (nucleolar organizing regions) in human sperm cells.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births, making this type of rearrangement the most common structural chromosomal abnormalities seen in the general population. In this study, we reports 872 cases of ROBs from 205,001 specimens karyotyped postnatally in a single accredited laboratory in China, including 583 balanced ROBs, 264 unbalanced ROBs, 9 mosaic ROBs, and 18 complex ROBs. Ninety-three percent of the balanced ROBs observed were adults with infertility, miscarriage, or offspring(s) with known chromosomal abnormalities. Significant excess of females were found to be carriers of balanced ROBs with an adjusted male/female ratio of 0.77. Ninety-eight percent of the unbalanced ROBs observed were children with variable referral reasons. Almost all of the unbalanced ROBs involved chromosome 21 except a single ROB with [46,XX,der(13;14),+13] identified in a newborn girl with multiple congenital anomalies. Multiple novel ROB karyotypes were reported in this report. This study represents the largest collections of ROBs in Chinese population.
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