ArticleJournal of pediatric genetics2017
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria.
Article in Journal of pediatric genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion.Molecular syndromology · 2026Article
- Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family.European journal of human genetics : EJHG · 2026Article
- The molecular mechanisms of recombinant chromosome 18 with parental pericentric inversions and a review of the literature.Journal of human genetics · 2023Review
- Pseudocoarctation of aorta: a very rare anatomic anomaly.Indian journal of thoracic and cardiovascular surgery · 2020Article
- Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.Molecular cytogenetics · 2019Article
- Genetics and genomics in Peru: Clinical and research perspective.Molecular genetics & genomic medicine · 2018Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others. Karyotype analysis of family members determined the mother as the carrier of a pericentric inversion: 18[inv(18)(p11.2q21.3)]. This child carries a recombinant chromosome 18, with chromosomal microarray analysis detecting two genomic imbalances in patient's chromosome 18: one duplicated region and one deleted segment in the large and the short arms, respectively. Persistent microscopic hematuria has not been reported among 18p-/18q+ phenotypes. Our patient elucidates that other factors play significant and yet unknown roles for not fulfilling the proposed genotype-phenotype correlation associated with hemizygosity in this type of recombinant chromosome 18 or presenting these features as the patient ages.
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