De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting
1994; Wiley; Volume: 45; Issue: 6 Linguagem: Inglês
10.1111/j.1399-0004.1994.tb04035.x
ISSN1399-0004
AutoresElke Back, Roland Toder, I. Voiculescu, A. Wildberg, W. Schempp,
Tópico(s)Cancer Genomics and Diagnostics
ResumoThis report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karotype 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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