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CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

✍ Scribed by Dupont, Céline; Pipiras, Eva; Chantot-Bastaraud, Sandra; Verloes, Alain; Baumann, Clarisse; Wolf, Jean-Philippe; Benzacken, Brigitte


Book ID
110025397
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
118 KB
Volume
11
Category
Article
ISSN
1018-4813

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✍ R. J. Hastings; D. L. Nisbet; K. Waters; T. Spencer; L. S. Chitty 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 210 KB 👁 2 views

We present 16 cases, 10 de novo and 6 familial, in which extra structurally abnormal chromosomes (ESACs) were diagnosed prenatally and identified by fluorescence in situ hybridization (FISH) studies with follow up from birth. We review the literature on prenatally diagnosed ESACs arising de novo and