ArticleHuman genetics1995
Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.
Article in Human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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.
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.
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Who cites it
33 citing papers in PubMed, 131 citations in OpenAlex.
- Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader-Willi Syndrome.Diagnostics (Basel, Switzerland) · 2023Article
- AJournal of genetics · 2020Article
- The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report.Iranian journal of medical sciences · 2019Article
- Small supernumerary marker chromosomes and their correlation with specific syndromes.Advanced biomedical research · 2015Review
- Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.Molecular cytogenetics · 2015Article
- Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.Clinical medicine insights. Case reports · 2015Article
- Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1➔qter in prenatal diagnosis: a case report.Molecular cytogenetics · 2014Article
- A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.BMC medical genetics · 2013Article
- Supernumerary marker chromosomes derived from chromosome 6: cytogenetic, molecular cytogenetic, and array CGH characterization.American journal of medical genetics. Part A · 2012Article
- Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Journal of neuropathology and experimental neurology · 2012Article
- De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.PloS one · 2012Article
- The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.Neurobiology of disease · 2010Review
- The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).Orphanet journal of rare diseases · 2008Review
- Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report.Molecular cytogenetics · 2008Article
- Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.American journal of human genetics · 2008Article
- Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.Journal of autism and developmental disorders · 2007Article
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- Infertility and marker chromosomes: application of molecular cytogenetic techniques in a case of inv dup(15).Journal of applied genetics · 2006Article
- High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.American journal of human genetics · 2004Article
- Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.American journal of human genetics · 2003Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Seventeen patients presenting with either de novo or familial supernumerary marker (mar) 15 chromosomes were shown by fluorescent in situ hybridization techniques (FISH) to have markers derived from and composed entirely of chromosome 15 material. Using a combination of conventional cytogenetics, FISH, Southern blotting and multiplex polymerase chain reaction (PCR) methods, it was possible to sub-classify the 17 mar(15)s into six distinct morphological and molecular groups. Analysis of DNA and metaphase spreads from the probands and their parents using probes and primers from the pericentromeric and Prader-Willi/Angelman syndromes critical regions (PWS/AS), clearly differentiated between marker 15s which included the PWS/AS critical regions and those which did not. A direct correlation between the presence of the PWS/AS region in the mar(15) and severe mental retardation was observed. Based on these results, a system of classification of supernumerary marker 15 chromosomes is proposed.
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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.