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RESEARCH PRODUCT
Tetrasomy 18p de novo: Identification by FISH with conventional and microdissection probes and analysis of parental origin and formation by short sequence repeat typing
Engelhardt SchleiermacherThomas EggermannHartmut EngelsMarkus M. NöthenS. Stengel-rutkowskiGesa SchwanitzBarbara MoskalonekJutta Müller-naviasubject
Genetic MarkersMalemedicine.medical_specialtyMarker chromosomeCentromereIsochromosomeMothersBiologyFathersTetrasomy 18pChromosome 18GeneticsmedicineHumansAllelesIn Situ Hybridization FluorescenceGenetics (clinical)Repetitive Sequences Nucleic AcidGeneticsmedicine.diagnostic_testCytogeneticsChromosome MappingInfantAneuploidymedicine.diseaseChromosome microdissectionMolecular biologyChild PreschoolTetrasomyFemaleChromosomes Human Pair 18DNA ProbesFluorescence in situ hybridizationdescription
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 microdissection 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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1996-05-01 | Human Genetics |