ArticleHuman genetics1996
Tetrasomy 18p de novo: identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing.
Article in Human genetics, 1996. 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.
- Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.Molecular cytogenetics · 2022Article
- Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.Molecular genetics & genomic medicine · 2021Article
- Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities.International journal of molecular and cellular medicine · 2017Article
- Tetrasomy 18p in a male dysmorphic child in southeast Turkey.Journal of genetics · 2009Article
- De novo isochromosome 18p in a female dysmorphic child.Journal of applied genetics · 2006Article
- Characterization of marker chromosomes by fish using microdissected probes from old Carnoy-fixed cells: report of two cases.The Japanese journal of human genetics · 1997Article
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8 authors.
Funding
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Abstract
We report a de novo supernumerary isochromosome 18p in a child with tetrasomy 18p, analyzed by a straightforward combination of cytogenetic and molecular cytogenetic methods. The diagnostic procedure consisted of standard banding techniques and fluorescence in situ hybridization (FISH) with centromere and library DNA probes for chromosome 18, and 18p-specific FISH probes prepared by chromosome dissesction and in vitro amplification. The maternal origin as well as the most probable cell stages of formation of the supernumerary isochromosome were determined by typing of short sequence repeats (SSRs). The pattern of allelic distribution suggests a nondisjunction during meiosis followed by a centromeric misdivision in an early postzygotic mitosis as the most probable mode of isochromosome 18p formation. The combination of the applied methods represents a powerful tool to investigate the nature and the origin of de novo marker chromosomes.
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