ArticleHuman genetics1996
Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities.
Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 40 citations in OpenAlex.
- PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.Genome biology · 2023Article
- Molecular cytogenetic analysis of telomere rearrangements.Current protocols in human genetics · 2015Article
- Disorders caused by chromosome abnormalities.The application of clinical genetics · 2010Article
- Structural divergence between the human and chimpanzee genomes.Human genetics · 2007Review
- Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions.Genome research · 2002Article
- Genomic structure and evolution of the ancestral chromosome fusion site in 2q13-2q14.1 and paralogous regions on other human chromosomes.Genome research · 2002Article
- The evolutionary origin of human subtelomeric homologies--or where the ends begin.American journal of human genetics · 2002Article
- 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
- An optimized set of human telomere clones for studying telomere integrity and architecture.American journal of human genetics · 2000Article
- Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.Journal of medical genetics · 2000Review
- A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation.American journal of human genetics · 1999Article
- Two 22q telomere deletions serendipitously detected by FISH.Journal of medical genetics · 1998Article
- Characterization of short tandem repeats from thirty-one human telomeres.Genome research · 1997Article
- Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.Journal of medical genetics · 1997Article
- Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A number of human telomeres have been successfully cloned using a modified yeast artificial chromosome (YAC) vector (half-YAC) cloning strategy, but to date, human chromosome 22q has not been identified by this approach. We used an alternative approach of genomic walking, starting from a subtelomeric sequence, Tel-Bam3.4. present on a number of human chromosomes including 22q. This approach was successful in the development of a cosmid contig representing the terminal 140 kb of human chromosome 22q, providing telomeric closure of the genetic and physical maps for 22q. The most distal region of the contig contains subtelomeric repeats which crosshybridize to a number of chromosomes, while the proximal sequences are unique for 22q. The unique sequence cosmid was used as a 22qter-specific probe for fluorescence in situ hybridization (FISH) analysis, which confirmed that this cosmid was distal to the most telomeric marker previously available for chromosome 22. In addition, this cosmid was used to document a 22q terminal deletion that was not detectable by conventional cytogenetic analysis. Unique telomere-specific FISH probes such as this one will have significant diagnostic value in the detection of cryptic deletions and translocations in patients with unexplained mental retardation and other patient populations.
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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.