ArticleEuropean journal of human genetics : EJHG2011
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.
Article in European journal of human genetics : EJHG, 2011. 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, 80 citations in OpenAlex.
- Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion.Molecular syndromology · 2026Article
- Optical genome mapping of a complex structural rearrangement family line on chromosome 18.Hereditas · 2025Article
- The molecular mechanisms of recombinant chromosome 18 with parental pericentric inversions and a review of the literature.Journal of human genetics · 2023Review
- Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.Frontiers in genetics · 2022Article
- A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria.Journal of pediatric genetics · 2017Article
- Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos.Scientific reports · 2015Article
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
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Abstract
In this study, we report a familial inversion of chromosome 18, inv(18)(p11.31q21.33), in both members of a consanguineous couple. Their first child had inherited one balanced pericentric inversion along with a recombinant chromosome 18 resulting in dup(18q)/del(18p), and had mild dysmorphic features in the absence of mental and developmental retardation. The second child had received two recombinant chromosomes 18, from the mother a derivative chromosome 18 with dup(18p)/del(18q) and from the father a derivative chromosome 18 with dup(18q)/del(18p). The aberration was prenatally detected; however, as the two opposite aneuploidies were thought to compensate each other, the family decided to carry on with the pregnancy, knowing that uniparental disomy for the segments outside the inversion could have an adverse influence on the development of the child. Uniparental disomy was confirmed by SNP arrays. The child, who has been followed up until the age of 20 months, is healthy and normal. It seems to be the first reported case with two opposite recombinant chromosomes that compensate each other and lead to segmental uniparental disomy for two segments on the chromosome, one maternal and the other paternal.
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