Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature.
Xefteris A, Sekerli E, Arampatzi A, Charisiou S, Oikonomidou E, Efstathiou G, Peroulis N, Malamidou A, Tsoulou-Panidou E, Agakidou E, Sarafidis K, Psarakis A, Kataras T, Daskalakis G.
Xefteris A, et al.
Cytogenet Genome Res. 2019;159(3):109-118. doi: 10.1159/000504159. Epub 2019 Dec 10.
Cytogenet Genome Res. 2019.
PMID: 31816617
Review.
According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of speech, microcephaly, retrognathia, bifid uvula, ear malforma …
According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-s …