ArticleBMC medical genetics2014
Duplication 9p and their implication to phenotype.
Article in BMC medical genetics, 2014. 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, 80 citations in OpenAlex.
- Article
- X-linked Intellectual Disability with Novel Chromosome 9p12-pter Unbalanced Translocation on Chromosome Xp.Internal medicine (Tokyo, Japan) · 2025Article
- Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders.Molecular syndromology · 2025Article
- Phenotypic and genotypic insights into concurrent tertiary trisomy for 9p and 18p.Molecular cytogenetics · 2025Article
- A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2024Article
- Cytogenomic characterization of small supernumerary marker chromosomes in patients with pigmentary mosaicism.Frontiers in genetics · 2024Article
- A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.Research square · 2023Article
- Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.Molecular cytogenetics · 2023Article
- Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report.BMC pediatrics · 2023Article
- Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability.Children (Basel, Switzerland) · 2023Article
- A de novo chromosome 9p duplication in a female child with short stature and developmental delay.SAGE open medical case reports · 2023Article
- Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies.Journal of translational medicine · 2022Article
- Cases of tetrasomy 9p and trisomy 9p in prenatal diagnosis-Analysis of noninvasive and invasive test results.Frontiers in genetics · 2022Article
- A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.Molecular cytogenetics · 2021Article
- Lessons learned from a child with a chromosomal abnormality but no major congenital anomalies.Paediatrics & child health · 2021Article
- Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign.Medicine · 2021Article
- Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder.Translational psychiatry · 2020Article
- De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation.Journal of pediatric genetics · 2020Article
- Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.Molecular cytogenetics · 2020Article
- Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly.Pediatric research · 2017Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTrisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them involving 9p centromere alterations.
methodsThe rearrangements in the patients were characterized by G-banding, SNP-array and fluorescent in situ hybridization (FISH) with different probes.
resultsTwo patients presented de novo dicentric chromosomes: der(9;15)t(9;15)(p11.2;p13) and der(9;21)t(9;21)(p13.1;p13.1). One patient presented two concomitant rearranged chromosomes: a der(12)t(9;12)(q21.13;p13.33) and an psu i(9)(p10) which showed FISH centromeric signal smaller than in the normal chromosome 9. Besides the duplication 9p24.3p13.1, array revealed a 7.3 Mb deletion in 9q13q21.13 in this patient. The break in the psu i(9)(p10) probably occurred in the centromere resulting in a smaller centromere and with part of the 9q translocated to the distal 12p with the deletion 9q occurring during this rearrangement. Two patients, brother and sister, present 9p duplication concomitant to 18p deletion due to an inherited der(18)t(9;18)(p11.2;p11.31)mat.
conclusionsThe patients with trisomy 9p present a well-recognizable phenotype due to facial appearance, although the genotype-phenotype correlation can be difficult due to concomitant partial monosomy of other chromosomes. The chromosome 9 is rich in segmental duplication, especially in pericentromeric region, with high degree of sequence identity to sequences in 15p, 18p and 21p, chromosomes involved in our rearrangements. Thus, we suggest that chromosome 9 is prone to illegitimate recombination, either intrachromosomal or interchromosomal, which predisposes it to rearrangements, frequently involving pericentromeric regions.
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