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Article

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

European journal of medical genetics - 1 Jan 2000

Gijsbers Antoinet C J, Dauwerse Johannes G, Bosch Cathy A J, Boon Elles M J, van den Ende Wilco, Kant Sarina G, Hansson Kerstin M B, Breuning Martijn H, Bakker Egbert, Ruivenkamp Claudia A L

Abstract excerpt

Mosaicism involving a normal cell line and an unbalanced autosomal translocation are rare. In this study we present three new cases with such a mosaicism, which were detected by Single Nucleotide Polymorphism (SNP) array analysis in our routine diagnostic setting. These cases were further characterized using Fluorescence in situ Hybridisation (FISH) analysis and conventional karyotyping. The first case is a...

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Identifiers

PMID: 21664500
DOI: 10.1016/j.ejmg.2011.05.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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