1994•Clinical GeneticsRequires access

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

Elke Back, Roland Toder, I. Voiculescu, A. Wildberg, W. Schempp

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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Key concepts: Isochromosome, Tetrasomy, Marker chromosome, Biology, Genetics, Small supernumerary marker chromosome, Chromosome 18, Chromosome