ArticleAmerican journal of human genetics1997
Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 137 citations in OpenAlex.
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- Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats.Molecular autism · 2020Article
- Altered Intestinal Morphology and Microbiota Composition in the Autism Spectrum Disorders Associated SHANK3 Mouse Model.International journal of molecular sciences · 2019Article
- USP8 Deubiquitinates SHANK3 to Control Synapse Density and SHANK3 Activity-Dependent Protein Levels.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Prospects of Zinc Supplementation in Autism Spectrum Disorders and Shankopathies Such as Phelan McDermid Syndrome.Frontiers in synaptic neuroscience · 2018Article
- A sharp Pif1-dependent threshold separates DNA double-strand breaks from critically short telomeres.eLife · 2017Article
- Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.Scientific reports · 2017Article
- Molecular cytogenetic analysis of telomere rearrangements.Current protocols in human genetics · 2015Article
- Functional annotation of proteome encoded by human chromosome 22.Journal of proteome research · 2014Article
- Chk2 and p53 regulate the transmission of healed chromosomes in the Drosophila male germline.PLoS genetics · 2014Article
- Regulation of telomere addition at DNA double-strand breaks.Chromosoma · 2013Review
- Modeling autism by SHANK gene mutations in mice.Neuron · 2013Review
- Ring chromosome 22: a review of the literature and first report from India.Balkan journal of medical genetics : BJMG · 2012Article
- Telomere dysfunction and chromosome instability.Mutation research · 2012Review
- Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?Neuropsychiatric disease and treatment · 2012Article
- Article
- Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Human molecular genetics · 2011Article
- Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.PLoS genetics · 2011Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have analyzed a recently described 22q13.3 microdeletion in a child with some overlapping features of the cytologically visible 22q13.3 deletion syndrome. Patient NT, who shows mild mental retardation and delay of expressive speech, was previously found to have a paternal microdeletion in the subtelomeric region of 22q. In order to characterize this abnormality further, we have constructed a cosmid/P1 contig covering the terminal 150 kb of 22q, which encompasses the 130-kb microdeletion. The microdeletion breakpoint is within the VNTR locus D22S163. The cloning of the breakpoint sequence revealed that the broken chromosome end was healed by the addition of telomeric repeats, indicating that the microdeletion is terminal. This is the first cloned terminal deletion breakpoint on a human chromosome other than 16p. The cosmid/P1 contig was mapped by pulsed-field gel electrophoresis analysis to within 120 kb of the arylsulfatase A gene, which places the contig in relation to genetic and physical maps of the chromosome. The acrosin gene maps within the microdeletion, approximately 70 kb from the telomere. With the distal end of chromosome 22q cloned, it is now possible to isolate genes that may be involved in the overlapping phenotype of this microdeletion and 22q13.3 deletion syndrome.
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Identifiers
8981954PMC1712560W1515868142What OpenQuestion holds
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.