ArticleAmerican journal of human genetics1994
A somatic origin of homologous Robertsonian translocations and isochromosomes.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 129 citations in OpenAlex.
- Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review.Frontiers in genetics · 2025Article
- Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.European journal of human genetics : EJHG · 2018Article
- The Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report.International journal of molecular and cellular medicine · 2017Article
- Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.PloS one · 2016Article
- A study of a rare chromosomal disorder: mosaic 46, XX, del (18)(p11.2)/46, XX, i(18q).Journal of genetics · 2013Article
- Isochromosome Yp and jumping translocation of Yq resulting in five cell lines in an infertile male: a case report and review of the literature.Molecular cytogenetics · 2013Article
- Normal sperm in a 2;2 homologous male translocation carrier.Journal of assisted reproduction and genetics · 2012Article
- Chromosome evolution in the subtribe Bovina (Mammalia, Bovidae): the karyotype of the Cambodian banteng (Bos javanicus birmanicus) suggests that Robertsonian translocations are related to interspecific hybridization.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2008Article
- Growth parameters in maternal uniparental disomy 7 and 14.European journal of pediatrics · 2007Article
- Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Article
- Parental origin and timing of de novo Robertsonian translocation formation.American journal of human genetics · 2002Review
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Journal of medical genetics · 2001Review
- Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.Journal of medical genetics · 1998Article
- The mechanisms involved in formation of deletions and duplications of 15q11-q13.Journal of medical genetics · 1998Article
- Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.American journal of human genetics · 1997Article
- Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)American journal of human genetics · 1996Article
- Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8.Human genetics · 1995Article
- Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.American journal of human genetics · 1995Article
- Molecular characterization of de novo secondary trisomy 13.American journal of human genetics · 1994Article
- Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.Journal of medical genetics · 1994Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
One t(14q14q), three t(15q15q), two t(21q21q), and two t(22q22q) nonmosaic, apparently balanced, de novo Robertsonian translocation cases were investigated with polymorphic markers to establish the origin of the translocated chromosomes. Four cases had results indicative of an isochromosome: one t(14q14q) case with mild mental retardation and maternal uniparental disomy (UPD) for chromosome 14, one t(15q15q) case with the Prader-Willi syndrome and UPD(15), a phenotypically normal carrier of t(22q22q) with maternal UPD(22), and a phenotypically normal t(21q21q) case of paternal UPD(21). All UPD cases showed complete homozygosity throughout the involved chromosome, which is supportive of a postmeiotic origin. In the remaining four cases, maternal and paternal inheritance of the involved chromosome was found, which unambiguously implies a somatic origin. One t(15q15q) female had a child with a ring chromosome 15, which was also of probable postmeiotic origin as recombination between grandparental haplotypes had occurred prior to ring formation. UPD might be expected to result from de novo Robertsonian translocations of meiotic origin; however, all de novo homologous translocation cases, so far reported, with UPD of chromosomes 14, 15, 21, or 22 have been isochromosomes. These data provide the first direct evidence that nonmosaic Robertsonian translocations, as well as isochromosomes, are commonly the result of a mitotic exchange.
Indexed as
Identifiers
8304346PMC1918173W1490209070What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.