ArticleProceedings of the National Academy of Sciences of the United States of America1994
Down syndrome phenotypes: the consequences of chromosomal imbalance.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 223 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.
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Who cites it
223 citing papers in PubMed, 1 synthesis or guideline pooled it, 790 citations in OpenAlex.
- Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.Human molecular genetics · 2016Pooled it
- Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model.eLife · 2026Article
- Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism.Molecular cytogenetics · 2026Article
- Caregivers' Perspectives on Medical Management and Its Helpfulness in Down Syndrome.American journal of medical genetics. Part A · 2026Article
- Caregiver Interviews Regarding Health in Down Syndrome.American journal of medical genetics. Part A · 2026Observational
- Gene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model.bioRxiv : the preprint server for biology · 2026Article
- Bothersome and Impactful Health Conditions in Children and Adolescents with Down Syndrome.The Journal of pediatrics · 2025Observational
- Comprehensive analysis of LncRNA-miRNA-mRNA CeRNA network associated with umbilical cord blood PBMC in down syndrome.Scientific reports · 2025Article
- Applicability of the Instrumented Pendulum Test for Assessing Limb Viscoelastic Properties in Neurological and Internal Diseases: A Narrative Review.Life (Basel, Switzerland) · 2025Review
- Mitochondrial Dysfunction Correlates with Brain Amyloid Binding, Memory, and Executive Function in Down Syndrome: Implications for Alzheimer's Disease in Down Syndrome.Brain sciences · 2025Article
- Article
- Associations between enamel defects and caries in patients with Down syndrome compared with normotypic patients.Brazilian oral research · 2025Article
- Global, regional, and national impact of Down syndrome on child and adolescent mortality from 1980 to 2021, with projections to 2050: a cross-sectional study.Frontiers in public health · 2025Article
- Anaesthesia for the child with trisomy 21.BJA education · 2024Review
- Oxytocin and our place in the universe.Comprehensive psychoneuroendocrinology · 2024Review
- Article
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
- Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?International journal of molecular sciences · 2024Review
- Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA.Nature communications · 2024Article
- Down syndrome and DYRK1A overexpression: relationships and future therapeutic directions.Frontiers in molecular neuroscience · 2024Review
163 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is associated with congenital anomalies of the gastrointestinal tract, an increased risk of leukemia, immune system defects, and an Alzheimer-like dementia. Moreover, DS is a model for the study of human aneuploidy. Although usually caused by the presence of an extra chromosome 21, subsets of the phenotypic features of DS may be caused by the duplication of small regions of the chromosome. The physical map of chromosome 21 allows the molecular definition of the regions duplicated in these rare cases of partial trisomy. As a first step in identifying the genes responsible for individual DS features and their pathophysiology, a panel of cell lines derived from 16 such individuals has been established and the molecular break points have been determined using fluorescence in situ hybridization and Southern blot dosage analysis of 32 markers unique to human chromosome 21. Combining this information with detailed clinical evaluations of these patients, we have now constructed a "phenotypic map" that includes 25 features and assigns regions of 2-20 megabases as likely to contain the genes responsible. This study provides evidence for a significant contribution of genes outside the D21S55 region to the DS phenotypes, including the facies, microcephaly, short stature, hypotonia, abnormal dermatoglyphics, and mental retardation. This strongly suggests DS is a contiguous gene syndrome and augurs against a single DS chromosomal region responsible for most of the DS phenotypic features.
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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.