ReviewJournal of medical case reports2018
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.
Review in Journal of medical case reports, 2018. 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.
- De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia.Journal of pediatric genetics · 2022Article
- Prenatal Sonographic Features of Ring Chromosome 15: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2022Article
- Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype.Open life sciences · 2022Article
- The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.Molecular genetics & genomic medicine · 2021Review
- 15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation.Case reports in medicine · 2021Article
- Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report.Molecular cytogenetics · 2020Article
- Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.Molecular genetics & genomic medicine · 2020Article
- Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.BMC medical genomics · 2019Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRing chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac problems, digit and musculoskeletal abnormalities, and mental and motor problems among others. Only 97 clinical cases of ring chromosome 15 syndrome have been reported since 1966 and a common phenotype for these patients has not been established. CASE PRESENTATION: The present case report describes a 15-month-old girl from the Amazon region of Ecuador, of Mestizo ancestry, who after cytogenetic tests showed a 46,XX,r(15) karyotype in more than 70% of metaphases observed. Her parents were healthy and non-related. The pregnancy was complicated and was positive for intrauterine growth retardation. Her birth weight was 1950 g, her length was 43.5 cm, and she had a head circumference of 29.3. In addition to postnatal growth delay, she had scant frontal hair, small eyes, hypertelorism, low-set of ears, flattened nasal bridge, anteverted nostrils, down-turned mouth, three café au lait spots, and delayed dentition.
conclusionsDespite the frequency of some phenotypes expressed in the different clinical cases reviewed and the present case, a common phenotype for patients with ring 15 could not be determined and it is restricted to the region of the chromosome lost during the ring formation.
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