ArticleSudanese journal of paediatrics2014
Trisomy 18 syndrome: Towards a balanced approach.
Article in Sudanese journal of paediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand.PloS one · 2023Article
- Single-Cell Transcriptomics of Cultured Amniotic Fluid Cells Reveals Complex Gene Expression Alterations in Human Fetuses With Trisomy 18.Frontiers in cell and developmental biology · 2022Article
- A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counseling on trisomy 18 in early second trimester.Archives of gynecology and obstetrics · 2021Article
- Article
- A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).Molecular cytogenetics · 2018Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Trisomy 18 is a relatively common autosomal trisomy syndrome. It is due to either full or partial presence of an extra copy of chromosome 18. Its prevalence correlates positively with advanced maternal age. Affected infants usually exhibit a variable pattern of anomalies including growth restriction, marked psychomotor and cognitive disability and an array of physical findings including characteristic craniofacial features, clenched fists with overriding fingers, small fingernails, underdeveloped thumbs, short sternum and heart and kidney anomalies. The majority of these infants die within the first year of life; only 5% to 10% of them survive longer. Their death is primarily due to cardio-respiratory failure. In this case report of trisomy 18 we tried to highlight the importance of antenatal diagnosis and to emphasize the need for proper counseling at different points of time starting from the moment the condition is suspected until the point when diagnosis is confirmed and thereafter.
Indexed as
Identifiers
27493408PMC4949802W2338279045What OpenQuestion holds
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.