ArticleJournal of medical genetics1997
The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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
9 citing papers in PubMed, 27 citations in OpenAlex.
- Phelan-McDermid syndrome: a classification system after 30 years of experience.Orphanet journal of rare diseases · 2022Article
- High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability.Journal of neural transmission (Vienna, Austria : 1996) · 2020Article
- Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report.Molecular syndromology · 2016Article
- Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.Journal of neurodevelopmental disorders · 2014Review
- Adult Phenotypes in Angelman- and Rett-Like Syndromes.Molecular syndromology · 2012Article
- The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).Molecular syndromology · 2012Article
- Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.Molecular cytogenetics · 2011Article
- Deletion 22q13.3 syndrome.Orphanet journal of rare diseases · 2008Article
- Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.Journal of medical genetics · 2005Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a family in which the proband has a direct insertion of band 7q21.3 into chromosome 22 at 22q13.3, karyotype 46,XX,dir ins(22;7)(q13.3;q21.2q22.1). Two of her children have unbalanced chromosome rearrangements involving 7q21.3, with one girl monosomic for the region and a boy trisomic for the region. The child monosomic for band 7q21.3 has a split hand/split foot (SHSF) anomaly and her clinical features are consistent with the 7q21-q22 contiguous gene deletion syndrome. In situ hybridisation studies have shown that the proband and her son have a submicroscopic deletion of chromosome band 22q13.3. Interstitial deletions of this chromosome band have rarely been reported.
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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.