Article
Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.
American journal of medical genetics. Part A - 1 Sept 2004
Zumkeller Walter, Volleth Marianne, Muschke Petra, Tönnies Holger, Heller Anita, Liehr Thomas, Wieacker Peter, Stumm Markus
Abstract excerpt
Reports on patients with pure and complete trisomy 12p are rare. Up to now, 12 cases have been described in the literature. Here, we report on the genotype/phenotype-correlation of a female patient with a pure trisomy 12p. Conventional cytogenetic studies on peripheral blood chromosomes as well as molecular cytogenetic (fluorescence in situ hybridization, FISH) techniques including whole chromosome painting...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.