ArticleAmerican journal of human genetics1994
Maternal uniparental disomy 22 has no impact on the phenotype.
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 16 papers, 1 of them a synthesis that pooled it.
What it found
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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
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing.Translational pediatrics · 2014Review
- Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter.Indian journal of human genetics · 2014Article
- Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.European journal of human genetics : EJHG · 2009Article
- Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.Journal of medical genetics · 2004Article
- Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.Journal of medical genetics · 2003Article
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Journal of medical genetics · 2001Review
- 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
- Distribution of mosaicism in human placentae.Human genetics · 1996Article
- Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.Journal of medical genetics · 1995Review
- Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.American journal of human genetics · 1994Article
- Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns.Human genetics · 1994Article
- Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.American journal of human genetics · 1994Article
- Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.Journal of medical genetics · 1994Article
- A somatic origin of homologous Robertsonian translocations and isochromosomes.American journal of human genetics · 1994Article
- De novo Balanced Robertsonian Translocation rob(22;22)(q10;q10) in a Woman with Recurrent Pregnancy Loss: A Rare Case.Journal of reproduction & infertilityArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 25-year-old normal healthy male was karyotyped because five of his wife's pregnancies terminated in spontaneous abortions at 6-14 wk of gestation. Cytogenetic investigation disclosed a de novo balanced Robertsonian t(22q;22q) translocation. Molecular studies revealed maternal only inheritance for chromosome 22 markers. Reduction to homozygosity for all informative markers indicates that the rearranged chromosome is an isochromosome derived from one of the maternal chromosomes 22. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 22 does not seem to have an adverse impact on the phenotype, apart from causing reproductive failure. It can be concluded that no maternally imprinted genes with major effect map to chromosome 22.
Indexed as
Identifiers
8279466PMC1918072What 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.