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Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation

✍ Scribed by van den Berg, Cardi; Pijpers, Leen; Halley, Dicky J.J.; Opstal, Diane Van; Los, Frans J.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 33 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990910)86:2<151::aid-ajmg12>3.0.co;2-n

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✦ Synopsis

We report on the prenatal detection and further genetic studies in a case of trisomy 18 caused by isochromosome 18p [i(18p)] and 18q [i(18q)] formation. The diagnosis was made by standard cytogenetic techniques in amniotic fluid cells and confirmed by fluorescence in situ hybridization. The formation of the isochromosomes cannot be explained by a single model; centromere misdivision and meiosis II nondisjunction without recombination or mitotic misdivision are the most likely mechanisms of formation as indicated by DNA analysis. Am. J. Med. Genet. 86:151-155, 1999.

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