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Review
. 1994 Jun;45(6):301-4.
doi: 10.1111/j.1399-0004.1994.tb04035.x.

De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

E Back  1 , R Toder, I Voiculescu, A Wildberg, W Schempp
Affiliations
Review

De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

E Back et al. Clin Genet. 1994 Jun.

Abstract

This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that the marker chromosome consisted of chromosome 18 material in both cases.

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