ArticleMolecular cytogenetics2013
Heteromorphic variants of chromosome 9.
Article in Molecular cytogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Interobserver reliability and digital morphometric characterization of constitutional chromosomal heteromorphisms in clinical cytogenetics.Human genetics · 2026Article
- An atypical variant of congenital bronchoesophageal fistula associated with esophageal atresia and right main bronchial atresia and right lung hypoplasia in a preterm neonate: a case report.Journal of medical case reports · 2026Article
- Article
- From genes to generations: genetic evaluation and counseling for infertility and pregnancy loss.Frontiers in genetics · 2026Article
- Effect of pericentric inversion of chromosome 9 on reproductive outcomes in assisted reproductive technology: a propensity score-matched cohort study.Frontiers in endocrinology · 2026Article
- Origin and evolution of acrocentric chromosomes in human and great apes.bioRxiv : the preprint server for biology · 2025Article
- IUGR ambiguous genitalia in Iran: a case report.Journal of medical case reports · 2025Article
- Cytogenomic characterization of karyotypes with additional autosomal material.Scientific reports · 2025Article
- Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.Human genome variation · 2024Review
- Successful Live Twin Birth through IVF/ICSI from a Couple with an Infertile Father with Pericentric Inversion of Chromosome 9 (p12q13): A Case with a High Aneuploidy Rate.Medicina (Kaunas, Lithuania) · 2022Article
- Review
- Svetlana G. Vorsanova (1945-2021).Molecular cytogenetics · 2022Article
- The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases.Human genome variation · 2021Article
- Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.Journal of human genetics · 2020Article
- Analysis of the clinical features of pericentric inversion of chromosome 9.The Journal of international medical research · 2020Article
- Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9.Radiology case reports · 2020Article
- A high level of tetrasomy 9p mosaicism but no clinical manifestations other than moderate oligozoospermia with chromosomally balanced sperm: a case report.Journal of assisted reproduction and genetics · 2020Article
- Pericentric inversion (Inv) 9 variant-reproductive risk factor or benign finding?Journal of assisted reproduction and genetics · 2019Article
- Karyotype analysis in children with idiopathic intellectual disability.Sudanese journal of paediatrics · 2019Article
- Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report.Journal of medical case reports · 2016Article
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Authors and funding
32 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHeterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorphism carriers.
resultsIn this study, 334 carriers of heterochromatic variants of chromosome 9 were included, being 192 patients from Western Europe and the remainder from Easter-European origin. A 3-color-fluorescence in situ hybridization (FISH) probe-set directed against for 9p12 to 9q13~21.1 (9het-mix) and 8 different locus-specific probes were applied for their characterization. The 9het-mix enables the characterization of 21 of the yet known 24 chromosome 9 heteromorphic patterns. In this study, 17 different variants were detected including five yet unreported; the most frequent were pericentric inversions (49.4%) followed by 9qh-variants (23.9%), variants of 9ph (11.4%), cenh (8.2%), and dicentric- (3.8%) and duplication-variants (3.3%). For reasons of simplicity, a new short nomenclature for the yet reported 24 heteromorphic patterns of chromosome 9 is suggested. Six breakpoints involved in four of the 24 variants could be narrowed down using locus-specific probes.
conclusionsBased on this largest study ever done in carriers of chromosome 9 heteromorphisms, three of the 24 detailed variants were more frequently observed in Western than in Eastern Europe. Besides, there is no clear evidence that infertility is linked to any of the 24 chromosome 9 heteromorphic variants.
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