ArticleAmerican journal of human genetics2008
Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 145 citations in OpenAlex.
- Cytomolecular Analysis of a Ring X Chromosome in a Patient with Turner Syndrome: A Case Report.Molecular syndromology · 2026Article
- Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models.Frontiers in genetics · 2025Article
- Chromosomal Abnormalities of Interest in Turner Syndrome: An Update.Journal of pediatric genetics · 2023Review
- Be careful with small supernumerary marker chromosomes!Frontiers in genetics · 2023Article
- Small supernumerary marker chromosomes derived from human chromosome 11.Frontiers in genetics · 2023Article
- Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives.Journal of assisted reproduction and genetics · 2020Review
- The Identification and Analysis of mRNA-lncRNA-miRNA Cliques From the Integrative Network of Ovarian Cancer.Frontiers in genetics · 2019Article
- Ring chromosomes: from formation to clinical potential.Protoplasma · 2018Review
- Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.Molecular cytogenetics · 2018Article
- Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.Journal of assisted reproduction and genetics · 2016Article
- Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.Molecular syndromology · 2016Article
- Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.Molecular cytogenetics · 2013Article
- Human Ring Chromosomes - New Insights for their Clinical Significance.Balkan journal of medical genetics : BJMG · 2013Article
- Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes.Molecular syndromology · 2013Article
- Clinical impact of proximal autosomal imbalances.Balkan journal of medical genetics : BJMG · 2012Article
- Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2012Article
- Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features.Molecular syndromology · 2012Article
- Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics.Molecular cytogenetics · 2012Article
- Small supernumerary marker chromosomes and uniparental disomy have a story to tell.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2011Review
- Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.American journal of medical genetics. Part A · 2011Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Supernumerary marker chromosomes (SMCs) are common, but their molecular content and mechanism of origin are often not precisely characterized. We analyzed all centromere regions to identify the junction between the unique chromosome arm and the pericentromeric repeats. A molecular-ruler clone panel for each chromosome arm was developed and used for the design of a custom oligonucleotide array. Of 27 nonsatellited SMCs analyzed by array comparative genomic hybridization (aCGH) and/or fluorescence in situ hybridization (FISH), seven (approximately 26%) were shown to be unique sequence negative. Of the 20 unique-sequence-positive SMCs, the average unique DNA content was approximately 6.5 Mb (range 0.3-22.2 Mb) and 33 known genes (range 0-149). Of the 14 informative nonacrocentric SMCs, five (approximately 36%) contained unique DNA from both the p and q arms, whereas nine (approximately 64%) contained unique DNA from only one arm. The latter cases are consistent with ring-chromosome formation by centromere misdivision, as first described by McClintock in maize. In one case, a r(4) containing approximately 4.4 Mb of unique DNA from 4p was also present in the proband's mother. However, FISH revealed a cryptic deletion in one chromosome 4 and reduced alpha satellite in the del(4) and r(4), indicating that the mother was a balanced ring and deletion carrier. Our data, and recent reports in the literature, suggest that this "McClintock mechanism" of small-ring formation might be the predominant mechanism of origin. Comprehensive analysis of SMCs by aCGH and FISH can distinguish unique-negative from unique-positive cases, determine the precise gene content, and provide information on mechanism of origin, inheritance, and recurrence risk.
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