ReviewJournal of medical genetics2005
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.
Review in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it.
- American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Guideline
- Prenatal diagnosis and genetic analysis: rare familial chromosomal duplications larger than 5 Mb without disease phenotypes.Pediatric research · 2025Article
- Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family.Molecular cytogenetics · 2022Article
- A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits.American journal of human genetics · 2022Article
- The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes.Biomedicines · 2022Article
- Factors affecting clinical manifestation of chromosomal imbalance in carriers of segmental autosomal mosaicism: differential impact of gender.Journal of applied genetics · 2022Review
- Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome.Molecular cytogenetics · 2022Article
- Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype.Molecular cytogenetics · 2022Article
- Review
- Article
- Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.European journal of human genetics : EJHG · 2018Article
- Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human.Current genomics · 2018Article
- Clinical interpretation of copy number variants in the human genome.Journal of applied genetics · 2017Review
- Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.Molecular cytogenetics · 2017Review
- Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.Molecular syndromology · 2016Article
- Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?Molecular cytogenetics · 2016Article
- Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants.Molecular cytogenetics · 2016Review
- Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements.Molecular cytogenetics · 2016Review
- Exceptional complex chromosomal rearrangements in three generations.Case reports in genetics · 2015Article
- Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction.Journal of human genetics · 2014Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families were divided into three groups depending on the presence or absence of an abnormal phenotype in parents and offspring. No detectable phenotypic effect was evident in 23/130 (18%) UBCA families ascertained mostly through prenatal diagnosis (group 1). In 30/130 (23%) families, the affected proband had the same UBCA as other phenotypically normal family members (group 2). In the remaining 77/130 (59%) families, UBCAs had consistently mild consequences (group 3). In the 70 families with established EVs of 8p23.1, 9p12, 9q12, 15q11.2, and 16p11.2, no phenotypic effect was apparent in 38/70 (54%). The same EV was found in affected probands and phenotypically normal family members in 30/70 families (43%) (group 2), and an EV co-segregated with mild phenotypic anomalies in only 2/70 (3%) families (group 3). Recent evidence indicates that EVs involve copy number variation of common paralogous gene and pseudogene sequences that are polymorphic in the normal population and only become visible at the cytogenetic level when copy number is high. The average size of the deletions and duplications in all three groups of UBCAs was close to 10 Mb, and these UBCAs and EVs form the "Chromosome Anomaly Collection" at http://www.ngrl.org.uk/Wessex/collection. The continuum of severity associated with UBCAs and the variability of the genome at the sub-cytogenetic level make further close collaboration between medical and laboratory staff essential to distinguish clinically silent variation from pathogenic rearrangement.
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