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Article

Tetrasomy 8p: Discordance of amniotic fluid and blood karyotypes

13 Feb 2003

Abstract excerpt

We describe a girl with congenital heart defect (ventricular septal defect), facial, ear and bone anomalies, agenesis of corpus callosum and conventional cytogenetic studies showing tetrasomy 8p. The identity of the isochromosome was confirmed by fluorescent in situ hybridization (FISH) using painting, subtelomeric and alpha satellite probes for chromosome 8. The extra isochromosome was observed in 100% of...

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Identifiers

PMID: 12687667
DOI: 10.1002/ajmg.a.10988

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