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

Molecular syndromology

Maria Yakoreva¹ 

关键词: Imprinting disorders;    Maternal uniparental disomy 14;    Mosaicism;    Temple syndrome;    Trisomy 14;   

DOI  :  10.1159/000489446

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

CC BY