ArticleObstetrics & gynecology science2013
A case report of prenatally diagnosed tetrasomy 18p.
Article in Obstetrics & gynecology science, 2013. 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, 16 citations in OpenAlex.
- Article
- Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.Molecular cytogenetics · 2022Article
- Minimally invasive endoscopic fenestration of a spinal arachnoid cyst in a child with tetrasomy 18p: illustrative case.Journal of neurosurgery. Case lessons · 2022Article
- BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes.Molecular diagnosis & therapy · 2021Article
- Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports.Medicine · 2019Article
- Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities.International journal of molecular and cellular medicine · 2017Article
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tetrasomy 18p, one of the most commonly observed isochromosomes, consists of two copies of the p arms on chromosome 18[i(18p)]. It is known as a de novo occurrence of non-disjunction or centromeric mis-division during meiosis II in the vast majority of cases. It has a prevalence of 1/140,000-180,000 live births and affects both genders equally. A 28-year-old woman was referred at 33+2 weeks gestation to rule out fetal congenital heart disease. Her prenatal ultrasonography showed intrauterine growth retardation, cardiomegaly, and imperforate anus. Doppler ultrasonographic finding showed fetal anemia. Tetrasomy 18p was confirmed by conventional karyotyping and fluorescence in situ hybridization. Because of its very low prevalence rate, only several cases of tetrasomy 18p has been reported worldwide and it has not yet been reported in Korea before. Therefore, we report a case of prenatally diagnosed tetrasomy 18p.
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