Τίτλος:
Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. 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 malformations, and heart defects in addition to typical features of PWS. Our proband exhibited increased deep tendon reflexes, an atypical feature which is not reported in the reviewed literature. The severity of the phenotype is not directly associated with the size of the deletion; however, using a combination of methods, the identification of breakpoints and the deleted genes can be helpful for the prognostication in patients with atypical PWS deletions. © 2019 S. Karger AG, Basel. All rights reserved.
Συγγραφείς:
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.
Περιοδικό:
Cytogenetic and Genome Research
Λέξεις-κλειδιά:
case report; chromosome 15q; chromosome breakage; chromosome deletion; chromosome translocation; clinical article; congenital heart malformation; disease severity; ear malformation; female; human; infant; mental deficiency; microcephaly; newborn; phenotype; Prader Willi syndrome; priority journal; prognosis; retrognathia; Review; speech; tendon reflex; uvula; chromosome 14; chromosome 15; comparative genomic hybridization; gene translocation; genetics; Prader Willi syndrome, Chromosome Deletion; Chromosomes, Human, Pair 14; Chromosomes, Human, Pair 15; Comparative Genomic Hybridization; Female; Humans; Infant, Newborn; Phenotype; Prader-Willi Syndrome; Translocation, Genetic
