A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

Maria Yakoreva; Tiina Kahre; Sander Pajusalu; Piret Ilisson; Olga Žilina; Vallo Tillmann; Tiia Reimand; Katrin Õunap

doi:10.1159/000489446

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

Mol Syndromol. 2018 Jul;9(4):182-189. doi: 10.1159/000489446. Epub 2018 May 18.

Authors

Maria Yakoreva^{1

2}, Tiina Kahre^{1

2}, Sander Pajusalu^{1

2}, Piret Ilisson¹, Olga Žilina^{1

3}, Vallo Tillmann^{4

5}, Tiia Reimand^{1

2

6}, Katrin Õunap^{1

2}

Affiliations

¹ Department of Clinical Genetics, United Laboratories, University of Tartu, Tartu, Estonia.
² Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
³ Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
⁴ Children's Clinic, Tartu University Hospital, University of Tartu, Tartu, Estonia.
⁵ Department of Pediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
⁶ Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.

Abstract

Temple syndrome (TS14) is a relatively recently discovered imprinting disorder caused by abnormal expression of genes at the locus 14q32. The underlying cause of this syndrome is maternal uniparental disomy of chromosome 14 (UPD(14)mat). Trisomy of chromosome 14 is one of the autosomal trisomies; in humans, it is only compatible with live birth in mosaic form. Although UPD(14)mat and mosaic trisomy 14 can arise from the same cellular mechanism, a combination of both has been currently reported only in 8 live-born cases. Hereby, we describe a patient in whom only UPD(14)mat-associated TS14 was primarily diagnosed. Due to the patient's atypical features (for TS14), additional analyses were performed and low-percent mosaic trisomy 14 was detected. It can be expected that the described combination of 2 etiologically related conditions is actually more prevalent. Additional chromosomal and molecular investigations are indicated for every patient with UPD(14)mat-associated TS14 with atypical clinical presentation.

Keywords: Imprinting disorders; Maternal uniparental disomy 14; Mosaicism; Temple syndrome; Trisomy 14.