ArticleJournal of medical genetics1994
Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.
Article in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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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.
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Who cites it
8 citing papers in PubMed, 121 citations in OpenAlex.
- Monozygotic twins discordant for trisomy 13.Journal of perinatology : official journal of the California Perinatal Association · 2012Article
- Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder.Molecular cytogenetics · 2012Article
- Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.American journal of medical genetics. Part A · 2010Article
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Journal of medical genetics · 2001Review
- Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.Journal of medical genetics · 1995Review
- The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32.American journal of human genetics · 1995Article
- UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13.Journal of medical genetics · 1995Article
- Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.Journal of medical genetics · 1995Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A case of maternal uniparental disomy of chromosome 13 is described. The subject is a phenotypically normal male who inherited a t(13;13)(p11.2;p11.2) from his mother who is a carrier of this translocation. The mother was ascertained through a history of recurrent abortion and is phenotypically normal. The translocation in both subjects was studied by cytogenetic and DNA analysis and appears to be a true dicentric isochromosome. These findings show that maternal uniparental disomy of chromosome 13 has had no pathological consequences and suggests that there is no imprinting of genes on maternally derived chromosome 13.
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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.