Article
Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.
Cytogenetic and genome research - 1 Jan 2012
Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid A B, Klein E, Kosyakova N, Kordass U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen M B, Manolakos E
Abstract excerpt
Tetrasomy 9p is a rare chromosomal syndrome and about 30% of known cases exhibit mosaicism. Approximately 50 of the reported cases with tetrasomy 9p mosaicism show a characteristic facial appearance, growth failure, and developmental delay. However, 3 patients with mosaicism for isochromosome 9p and a normal phenotype have also been reported. We report 2 additional cases of clinically normal young females with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.