ArticleAmerican journal of human genetics1993
Normal phenotype with paternal uniparental isodisomy for chromosome 21.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review.Frontiers in genetics · 2025Article
- Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.European journal of endocrinology · 2022Article
- Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.Molecular cytogenetics · 2018Article
- A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation.Scientific reports · 2017Article
- Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.PloS one · 2016Article
- Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing.Translational pediatrics · 2014Review
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Journal of medical genetics · 2001Review
- Isolation of a cosmid clone corresponding to an inv(21) breakpoint of a patient with transient abnormal myelopoiesis.American journal of human genetics · 1996Article
- Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.Journal of medical genetics · 1995Review
- Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns.Human genetics · 1994Article
- Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.Journal of medical genetics · 1994Article
- Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.American journal of human genetics · 1994Article
- Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis.American journal of human genetics · 1994Article
- Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.American journal of human genetics · 1994Article
- A somatic origin of homologous Robertsonian translocations and isochromosomes.American journal of human genetics · 1994Article
- Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism.Archives of gynecology and obstetrics · 1994Article
- Maternal uniparental disomy 22 has no impact on the phenotype.American journal of human genetics · 1994Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, we analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian translocation t(21q;21q). The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21 offspring. No phenotypic abnormalities were noted in the physical exam, and his past medical history was unremarkable. We obtained genotypes for the proband and his parents' leukocyte DNAs from 17 highly informative short sequence repeat polymorphisms that map in the pericentromeric region and along the entire length of 21q. The order of the markers has been previously determined through the linkage and physical maps of this chromosome. For the nine informative markers there was no maternal allele contribution to the genotype of the proband; in addition, there was always reduction to homozygosity of a paternal allele. These data indicated that there was paternal uniparental isodisomy for chromosome 21 (pUPiD21). We conclude that pUPiD21 is not associated with abnormal phenotypes and that there are probably no imprinted genes on chromosome 21.
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8213833PMC1682298What OpenQuestion holds
Registered trials
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