ArticleJournal of medical genetics1998
Two 22q telomere deletions serendipitously detected by FISH.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 82 citations in OpenAlex.
- Clinical Features of Aberrations Chromosome 22q: A Pilot Study.Global medical genetics · 2022Article
- Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.Brain sciences · 2021Article
- A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.Orphanet journal of rare diseases · 2020Article
- The sociability spectrum: evidence from reciprocal genetic copy number variations.Molecular autism · 2020Review
- A binding site outside the canonical PDZ domain determines the specific interaction between Shank and SAPAP and their function.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Micro-electrode array recordings reveal reductions in both excitation and inhibition in cultured cortical neuron networks lacking Shank3.Molecular psychiatry · 2016Article
- Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases.Case reports in genetics · 2016Article
- Molecular cytogenetic analysis of telomere rearrangements.Current protocols in human genetics · 2015Article
- The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).Molecular syndromology · 2012Article
- Molecular and Clinical Aspects of Angelman Syndrome.Molecular syndromology · 2012Article
- Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Neuropsychiatric disease and treatment · 2012Article
- Autism and cytogenetic abnormalities: solving autism one chromosome at a time.Current psychiatry reports · 2007Review
- Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.Journal of medical genetics · 2003Article
- Telomeres: a diagnosis at the end of the chromosomes.Journal of medical genetics · 2003Review
- Angelman syndrome: a review of the clinical and genetic aspects.Journal of medical genetics · 2003Review
- Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.American journal of human genetics · 2001Article
- Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.Journal of medical genetics · 2001Article
- Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.Journal of medical genetics · 2000Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cryptic telomere deletions have been proposed to be a significant cause of idiopathic mental retardation. We present two unrelated subjects, with normal G banding analysis, in whom 22q telomere deletions were serendipitously detected at two different institutions using fluorescence in situ hybridisation (FISH). Both probands presented with several of the previously described features associated with 22q deletions, including hypotonia, developmental delay, and absence of speech. Our two cases increase the total number of reported 22q telomere deletions to 19, the majority of which were identified by cytogenetic banding analysis. With the limited sensitivity of routine cytogenetic studies (approximately 2-5 Mb), these two new cases suggest that the actual prevalence of 22q telomere deletions may be higher than currently documented. Of additional interest is the phenotypic overlap with Angelman syndrome (AS) as it raises the possibility of a 22q deletion in patients in whom AS has been ruled out. The use of telomeric probes as diagnostic reagents would be useful in determining an accurate prevalence of chromosome 22q deletions and could result in a significantly higher detection rate of subtelomeric rearrangements.
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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.