ArticleCase reports in obstetrics and gynecology2014
Prenatal diagnosis of a fetus with ring chromosomal 15 by two- and three-dimensional ultrasonography.
Article in Case reports in obstetrics and gynecology, 2014. 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, 10 citations in OpenAlex.
- 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
- Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.Journal of medical case reports · 2018Review
- Chromosome 15 structural abnormalities: effect onEndocrine connections · 2017Article
- Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia.Molecular syndromology · 2016Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.
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Registered trials
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