title: A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.
abstract: Supernumerary invdup(15) chromosomes, now also reported as sSMC(15), containing two additional copies of Prader-Willi/Angelman critical region (PWACR) have been associated with distinct clinical phenotype that includes hypotonia, dysmorphisms, developmental delay/mental retardation, autistic behaviour, and epilepsy. We report on a healthy adult male carrying an sSMC(15) with two copies of PWACR in 20-50% of cells from different tissues. Molecular analyses showed the sSMC(15) as resulting from a PWACR-duplicated region spanning 8Mb which is larger than those in the only two other healthy PWACR-duplicated sSMC(15) carriers previously reported. Mosaicism level and mosaic cell line rate variation among different tissues observed in our case support mosaicism in critical tissues as of relevance for sSMC(15) phenotype-genotype correlations.
authors: Department of Medical Genetics, University G. D'Annunzio, Via dei Vestini, 66100 Chieti, Italy. paolo.guanciali@tin.it <paolo.guanciali@tin.it>
authors: Paolo
authors: P
authors: Guanciali-Franchi
authors: Giuseppe
authors: G
authors: Calabrese
authors: Elisena
authors: E
authors: Morizio
authors: Valentina
authors: V
authors: Gatta
authors: Chiara
authors: C
authors: Palka
authors: Liborio
authors: L
authors: Stuppia
authors: Orsetta
authors: O
authors: Zuffardi
mesh_terms: D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics*; D007446:Chromosome Inversion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011218:Prader-Willi Syndrome / Q000235:genetics*