Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature

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 re...

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Bibliographic Details
Published in:	Cytogenetic and genome research Vol. 159; no. 3; p. 109
Main Authors:	Xefteris, Anastasios, Sekerli, Eleni, Arampatzi, Antonia, Charisiou, Sofia, Oikonomidou, Eirini, Efstathiou, Georgios, Peroulis, Nikolaos, Malamidou, Aggeliki, Tsoulou-Panidou, Eleni, Agakidou, Eleni, Sarafidis, Kosmas, Psarakis, Antonios, Kataras, Thomas, Daskalakis, Georgios
Format:	Journal Article
Language:	English
Published:	Switzerland 01-01-2019
Subjects:	Chromosome Deletion Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 15 Comparative Genomic Hybridization Female Humans Infant, Newborn Phenotype Prader-Willi Syndrome - genetics Translocation, Genetic Translocation Deletion 15q14 Expanded Prader-Willi phenotype Array CGH Karyotype
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Summary:	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.
ISSN:	1424-859X
DOI:	10.1159/000504159