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Case Report: Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence <i>in situ</i> hybridization

1 Apr 1997

Abstract excerpt

We describe the first case of a live-born neonate with mosaic tetrasomy 21q confirmed by fluorescence in situ hybridization (FISH). A 38-year-old Caucasian female presented for amniocentesis for maternal age. Initial chromosome analysis of the amniocytes using GTG-banding showed a mos47,XY, +?i(12p)/46,XY karyotype. Follow-up studies with FISH identified the isochromosome as an i(21q); mos47,XY, +i(21q)/46,XY....

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PMID: 9184249
DOI: 10.1111/j.1399-0004.1997.tb02466.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Case Report: Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence <i>in situ</i> hybridizationPMID 9184249Read ↗

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