ArticleMolecular syndromology2020
A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period.
Article in Molecular syndromology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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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1 citing paper in PubMed, 2 citations in OpenAlex.
- Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms.Orphanet journal of rare diseases · 2024Review
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1 author at 1 institution in 1 country.
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Abstract
Fetuses with a single umbilical artery have a risk of increased chromosomal anomalies and congenital malformations. Ring chromosomes are rare and the phenotypic and clinical characteristics of affected individuals show great variability depending on the quantity of the lost critical genes or gains during the formation of the ring or due to mitotic instability. Ring chromosome 18 [r(18)] is characterized by short stature, craniofacial dysmorphism, mental and motor retardation, autoimmune disorders, extremity anomalies, dermal lesions, structural heart malformations, and kidney abnormalities. In this study, the clinical findings of a female patient who had a single umbilical artery in the prenatal period and was diagnosed as de novo r(18) by molecular karyotype analysis were compared with those in the literature. A detailed ultrasonographic examination of the fetus with a single umbilical artery may enable the detection of additional anomalies and thus the early diagnosis of chromosomal anomalies may be possible with prenatal genetic analysis.
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