ArticleJournal of applied genetics2006
De novo isochromosome 18p in a female dysmorphic child.
Article in Journal of applied genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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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.
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Who cites it
8 citing papers in PubMed, 26 citations in OpenAlex.
- The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.Italian journal of pediatrics · 2025Observational
- Minimally invasive endoscopic fenestration of a spinal arachnoid cyst in a child with tetrasomy 18p: illustrative case.Journal of neurosurgery. Case lessons · 2022Article
- Article
- Tetrasomy 18p: case report and review of literature.The application of clinical genetics · 2018Article
- Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child.Chinese medical journal · 2017Article
- A case report of prenatally diagnosed tetrasomy 18p.Obstetrics & gynecology science · 2013Article
- Article
- Tetrasomy 18p in a male dysmorphic child in southeast Turkey.Journal of genetics · 2009Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Isochromosome 18p results in tetrasomy 18p. Most of the i(18p) cases reported so far in the literature are sporadic due to de novo formation, while familial and mosaic cases are infrequent. It is a rare chromosomal abnormality, occurring once in every 140,000 livebirths, affecting males and females equally. In the present investigation, we report a de novo i(18p) in a female dysmorphic child. The small metacentric marker chromosome was confirmed as i(18p) in the proband by cytogenetic and FISH analysis [47,XX+i(18p)]. Cytogenetic investigations in the family members revealed normal chromosome numbers, indicating the case as a de novo event of i(18p) formation. It could be due to the somewhat advanced maternal age (32 years) and/or expression of recessive genes in the proband, who is the progeny of consanguineous marriage, which could have led to misdivision and nondisjunction of chromosome 18 in meiosis I, followed by failure in the chromatid separation of 18p in meiosis II and by inverted duplication.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.