Mosaic Trisomy r(14) Associated With Epilepsy and Mental Retardation

Abstract

We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.

Epilepsy in ring 14 chromosome syndrome

“…In both of our cases, fever determined a worsening of seizures, as was also previously reported [8,21,27,29,30]. Seizure recurrence might be in clusters, as reported for other genetic epileptic conditions such as epilepsy due to PCDH19 mutation [33], and a differential diagnosis should be considered in those cases.…”

Is trisomy 14 mosaic a clinically recognizable syndrome?—Case report and review

“…Other heart defects include VSD, pulmonic stenosis, PDA and pulmonary hypertension. Eight of 24 patients were microcephalic, whereas one [Tzoufi et al, 2007], and our patient had rather macrocephaly. Dandy-Walker anomaly [Lynch et al, 2004], alobar holoprosencephaly [Sepúlveda et al, 1998], abnormal granulocytes [Dallapicola et al, 1984] and elevated liver enzymes [Iglesias et al, 1997] have been described in association to trisomy 14 mosaicism.…”

“…Other abnormal cell lines reported include translocation (14;15) [Fujimoto et al, 1985] and dicentric chromosome 14 with a ''mirror image'' duplication resulting in trisomy for the entire chromosome 14 [Tunca et al, 2000]. Two abnormal cell lines resulting in mosaicism have also been reported [Jenkins et al, 1981;Antonarakis et al, 1993;Tzoufi et al, 2007;Becerra et al, 2008]. In all patients, except ours and Tunca et al [2000], the mosaicism was initially detected in blood.…”

“…Since its first description in 1975 by Rethoré et al,approximately 20 patients have been reported [Rethoré et al, 1975;Martin et al, 1977;Johnson et al, 1979;Turleau et al, 1980;Jenkins et al, 1981;Dallapicola et al, 1984;Ozawa et al, 1984;Fujimoto et al, 1985Fujimoto et al, , 1992Kaplan et al, 1986;Petersen et al, 1986;Lipson, 1987;Cheung et al, 1988;Vachvanichsanong et al, 1991;Antonarakis et al, 1993;Iglesias et al, 1997;Sepúlveda et al, 1998;Tunca et al, 2000;Lynch et al, 2004;Gudrun and Gillbe, 2005;Tzoufi et al, 2007;Becerra et al, 2008]. The existence of a clinically identifiable syndrome has been suggested [Lipson, 1987;Fujimoto et al, 1992;Iglesias et al, 1997;Lynch et al, 2004].…”

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

“…Becerra-Solano , et al reported a patient with a 45,X cell line besides the trisomy 14, however these are two non-cytogenetically related clones [16]. There are two cases reporting more than one abnormal cell line involving chromosome 14, nevertheless they lack the supernumerary chromosome 14 [17,18]. …”