ArticleAmerican journal of human genetics1994
Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Prenatal diagnosis of a de novo tetrasomy 15q24.3-25.3: Case report and literature review.Journal of clinical laboratory analysis · 2020Review
- Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.PLoS genetics · 2019Article
- Chromosome 15 structural abnormalities: effect onEndocrine connections · 2017Article
- Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities.Cytogenetic and genome research · 2015Article
- De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s.PloS one · 2012Article
- Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.Molecular cytogenetics · 2011Article
- Inverted duplications on acentric markers: mechanism of formation.Human molecular genetics · 2009Article
- Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.American journal of human genetics · 2008Review
- Reverse painting highlights the origin of chromosome aberrations.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2004Review
- Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25.Genome research · 2003Article
- Neocentromeres: role in human disease, evolution, and centromere study.American journal of human genetics · 2002Review
- Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.Genome research · 2001Article
- Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.American journal of human genetics · 2000Review
- Centromere DNA dynamics: latent centromeres and neocentromere formation.American journal of human genetics · 1997Review
- Dynamic elastic behavior of alpha-satellite DNA domains visualized in situ in living human cells.The Journal of cell biology · 1996Article
- Surprising deficiency of CENP-B binding sites in African green monkey alpha-satellite DNA: implications for CENP-B function at centromeres.Molecular and cellular biology · 1996Article
- Analysis of extrachromosomal structures containing human centromeric alphoid satellite DNA sequences in mouse cells.Chromosoma · 1996Article
- An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite.Human genetics · 1996Article
- A novel mechanism for the origin of supernumerary marker chromosomes.Human genetics · 1996Article
- Generation of a human X-derived minichromosome using telomere-associated chromosome fragmentation.The EMBO journal · 1995Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two patients with specific and similar phenotypes were both found to have an unusual marker chromosome present in 70%-80% of their lymphocytes at routine cytogenetic examination. The marker chromosomes were isolated by flow sorting and were amplified by degenerate oligonucleotide-primed PCR. These libraries and a cosmid probe located at 15q26 were used to characterize the marker chromosomes by FISH. Both marker chromosomes were found to consist of duplicated chromosome material from the distal part of chromosome 15q and were identified as inv dup(15) (qter-->q23::q23-->qter) and inv dup(15) (qter-->q24::q24-->qter), respectively. Hence, the markers did not include any known centromere region, and no alpha-satellite DNA could be detected at the site of the primary constriction. Tetrasomy 15q may be a new syndrome, associated with a specific type of marker chromosome. In addition, further analyses of this type of marker chromosome might give new insight into the structure and function of the mammalian centromere.
Indexed as
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8178828PMC1918253What OpenQuestion holds
Registered trials
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