ArticleNagoya journal of medical science2020
An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32-11.22.
Article in Nagoya journal of medical science, 2020. 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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6 citing papers in PubMed, 7 citations in OpenAlex.
- Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.Molecular cytogenetics · 2025Article
- Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review.Medicine · 2024Review
- Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case.BMC women's health · 2024Article
- Article
- Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report.World journal of clinical cases · 2023Article
- Detection of partial deletion and mosaicism using quantitative fluorescent polymerase chain reaction: Case reports and a review of the literature.Journal of clinical laboratory analysis · 2022Review
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7 authors at 1 institution in 1 country.
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Abstract
Quantitative Fluorescent - Polymerase Chain Reaction (QF-PCR) is a rapid prenatal diagnosis test for 21, 18, 13 and sex chromosomal aneuploidy detection. However, it could not detect partial trisomy or partial monosomy of those chromosomes. Here, we report a 19-month-old Vietnamese female with a 9.9 Mb pure deletion of chromosome 18 at 18p11.32-11.22 confirmed by next generation sequencing. The patient was short statured with facial dysmorphic features as well as motor skill and speech delays. First trimester screening showed high risk of trisomy 21 with only increased nuchal translucency (NT 3.9 mm) by ultrasound as an indication. Prenatal diagnosis by QF-PCR from amniotic DNA revealed normal disomy. Noticeably, two short tandem repeat (STR) markers D18S391 and D18S976 located on 18p exhibited uninformative patterns (one peak). Thus, our case suggested that the combination of both D18S391 and D18S976 markers with uninformative patterns in QF-PCR for prenatal diagnosis and increased NT in the first trimester ultrasound may be a significant indication of 18p monosomy.
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