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Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment
Barnicoat AJ, Bonneau JL, Boyd E, Docherty Z, Fennell SJ, Huret JL, King M, Maltby EL et al.. Clinical genetics, 1996-01-01
Topic: Brain proteins, microglia and lab models
We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplication of chromosome 21 (as well as cases of del (21q), which are partly the phenotypic countertype of trisomy 21) are of paramount importance in the understanding of genes involved in the phenotype of Down syndrome. The goal is to find the relevant genes implicated in the main traits of Down syndrome (i.e. mental retardation, Alzheimer disease, and serious visceral malformations). Such a goal, in our opinion, cannot be reached just by publishing the genotype and the phenotype of a small cohort of patients: 1. a sufficient number of accurate cases is needed, and 2. data have to be computerized for definite conclusions to be reached. The main aims of this report are to present our study protocol and to invite colleagues to participate in a collaborative study in order to collect a maximum of these (rare) cases.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Barnicoat, A. J., Bonneau, J. L., Boyd, E., Docherty, Z., Fennell, S. J., Huret, J. L., et al. (1996). Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment. Clinical genetics. https://doi.org/10.1111/j.1399-0004.1996.tb04319.x
Vancouver
Barnicoat AJ, Bonneau JL, Boyd E, Docherty Z, Fennell SJ, Huret JL, et al. Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment. Clinical genetics. 1996. doi:10.1111/j.1399-0004.1996.tb04319.x. PMID: 8721567.
BibTeX
@article{barnicoat1996-8721567,
author = {Barnicoat, A. J. and Bonneau, J. L. and Boyd, E. and Docherty, Z. and Fennell, S. J. and Huret, J. L. and King, M. and Maltby, E. L. and others},
title = {{Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment}},
journal = {Clinical genetics},
year = {1996},
doi = {10.1111/j.1399-0004.1996.tb04319.x},
pmid = {8721567},
url = {https://doi.org/10.1111/j.1399-0004.1996.tb04319.x}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome.
- Down syndromes with a partial duplication of chromosome 21 (as well as cases of del (21q), which are partly the phenotypic countertype of trisomy 21) are of paramount importance in the understanding of genes involved in the phenotype of Down syndrome.
- The goal is to find the relevant genes implicated in the main traits of Down syndrome (i.e. mental retardation, Alzheimer disease, and serious visceral malformations).
- Such a goal, in our opinion, cannot be reached just by publishing the genotype and the phenotype of a small cohort of patients: 1. a sufficient number of accurate cases is needed, and 2. data have to be computerized for definite conclusions to be reached.
- The main aims of this report are to present our study protocol and to invite colleagues to participate in a collaborative study in order to collect a maximum of these (rare) cases.
Why it matters
This report presents a study protocol and a call for collaboration to collect cases of Down syndrome with partial duplication of chromosome 21 or del (21q) syndrome, aiming to find genes involved in traits including Alzheimer disease. It is a protocol and does not report treatment, cure, or prevention results.
Study details
- Evidence strengthModerate
How this study scored 38/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Clinical genetics) |
| Journal's citation record | 2 / 4 | Clinical Genetics: journal h-index 151 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 1996 — older than 20 years, still counted |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (pubmed indexes it as a clinical or observational study) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 3 / 7 | Cited 18 times (OpenAlex, 2026-10-10) |
| Citations per year | 0 / 5 | 0.6 citations a year over 32 year(s) since 1996 |
| Impact for its field and year | 1 / 6 | Cited 0.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 0 / 4 | Cited 1 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author John Tolmie: h-index 52 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Guy's Hospital: institution h-index 734 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 4 institution(s) in 3 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 8721567) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 38 / 100 | — |
What each of these 20 components measures, and what this score is not →
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