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

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.

A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)

“…Our patient shares similarities of the swirly areas of hyperpigmentation with mosaic of trisomy 14 and with Turner syndrome, in addition to a global developmental delayed found in most of the cases mentioned above (Fig. 1a, b) 2,[5][6][7][8] . However, this patient does not have a cardiac condition, abdominal, limbs or rib deformities, or behavioral problems such as impulsivity, obstinacy, and compulsive skin picking ( Table 1).…”

“…Clinical presentation is variable, depending on the degree of mosaicism, size of the trisomic segment, concurrence with other chromosomal imbalances, and the parental origin of the rearrangement due to the possible imprinting effects. However, predominant symptoms are prenatal and postnatal growth failure, ear abnormalities, congenital heart defects, developmental delay, and genitourinary abnormalities 2 , 3 , as well as narrow palpebral fissures, broad nose, dysplastic and/or low set, micrognathia, and short neck 4 .…”

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

“…All four patients with CPP were the members of a single large family and had the same heterozygous paternally inherited variant c.326 G>A, p. (Cys109Tyr) in MKRN3 (RefSeq NM_005664.3). Both cases of TS14 had a concurrent trisomy-one patient with triple X syndrome and the other with mosaic trisomy 14-in addition to maternal UPD(14) [42]. The only patient with TNDM had an atypical clinical presentation and isolated hypomethylation of the PLAGL1 and IGF2R genes [36].…”

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation

“…Usually mosaic trisomy 14 presents as free trisomy 14 [He et al 2014, Rodrigues et al, 2016Zhang et al, 2016;Yakoreva et al, 2018], Robertsonian translocation [Ozawa et al, 1984], and non-Robertsonian translocation 131 [Tunca et al, 2000]. Both free trisomy and Robertsonian translocations have the same genomic dosage.…”

“…There are few reports that have shown 2 cell lines, one with uniparental disomy (UPD) 14 and the other with trisomy 14. This can be explained by trisomy rescue [Antonarakis et al, 1993;Cox et al, 2004;Stalman et al, 2015;Balbeur et al, 2016;Zhang et al, 2016;Ushijima et al, 2018;Yakoreva et al, 2018].…”