ArticleAmerican journal of human genetics1993
Uniparental disomy for chromosome 16 in humans.
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 31 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
31 citing papers in PubMed, 191 citations in OpenAlex.
- Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis.Molecular genetics & genomic medicine · 2025Article
- First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.Clinical epigenetics · 2022Article
- PMM2-CDG caused by uniparental disomy: Case report and literature review.JIMD reports · 2020Article
- Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.Cold Spring Harbor molecular case studies · 2017Article
- Fetoplacental discrepancy with normal karyotype in amniotic fluid and two different cell lines in placenta.Case reports in genetics · 2013Article
- Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.The Journal of pediatrics · 2009Article
- Discordance among blastomeres renders preimplantation genetic diagnosis for aneuploidy ineffective.Journal of assisted reproduction and genetics · 2007Article
- Nonviable human pre-implantation embryos as a source of stem cells for research and potential therapy.Stem cell reviews · 2005Review
- Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion.Journal of human genetics · 2005Article
- Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion.Journal of human genetics · 2004Article
- Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.Journal of medical genetics · 2001Article
- Recurrent Trisomies: Chance or Inherited Predisposition?Journal of genetic counseling · 1999Article
- An analysis of common isodisomic regions in five mUPD 16 probands.Journal of medical genetics · 1999Article
- Confined placental mosaicism and intrauterine fetal growth.Archives of disease in childhood. Fetal and neonatal edition · 1998Review
- Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.American journal of human genetics · 1997Article
- 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
- Confined placental mosaicism.Journal of medical genetics · 1996Review
- Distribution of mosaicism in human placentae.Human genetics · 1996Article
- Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.American journal of human genetics · 1995Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The association between chromosomal mosaicism observed on chorionic villus sampling (CVS) and poor pregnancy outcome has been well documented. CVS mosaicism usually represents abnormal cell lines confined to the placenta and often involves chromosomal trisomy. Such confined placental mosaicism (CPM) may occur when there is complete dichotomy between a trisomic karyotype in the placenta and a normal diploid fetus or when both diploid and trisomic components are present within the placenta. Gestations involving pure or significant trisomy in placental lineages associated with a diploid fetal karyotype probably result from a trisomic zygote which has lost one copy of the trisomic chromosome in the embryonic progenitor cells during cleavage. Uniparental disomy would be expected to occur in one-third of such cases. Trisomy of chromosome 7, 9, 15, or 16 is most common among the gestations with these dichotomic CPMs. Nine pregnancies with trisomy 16 confined to the placenta were prenatally diagnosed. Pregnancy outcome, levels of trisomic cells in term placentas, and fetal uniparental disomy were studied. Intrauterine growth retardation (IUGR), low birthweight, or fetal death was observed in six of these pregnancies and correlated with high levels of trisomic cells in the term placentas. Four of the five cases of IUGR or fetal death showed fetal uniparental disomy for chromosome 16. One of the infants with maternal uniparental disomy 16 had a significant malformation (imperforate anus). All infants with normal intrauterine growth showed term placentas with low levels of trisomic cells.(ABSTRACT TRUNCATED AT 250 WORDS)
Indexed as
Identifiers
8434609PMC1682104W1515885435What 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.