Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array‐CGH

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.…”

Phenotypic map in ring 14 syndrome

“…Based on their findings, Nucaro et al in press confirm the strict correlation between r14 and epilepsy and stress the possible aggravating role of r14 duplication, quoting the report by Tzoufi et al 2007 of a patient in whom, however, the duplicated ring was found in 20% of the cells, much above 2% seen in their own case. Given the known instability of ring chromosomes, a 2% mosaicism could very well originate in vitro, during the 72‐hr blood culture.…”

Cryptic Chromosome Rearrangements in Five Patients, with Normal and/or Abnormal Karyotypes, Associated with Mental Retardation, Autism and/or Epilepsy, Detected by BAC Genome Array-CGH

“…48 out of 50 metaphases examined showed r(14) and 2 a dup r(14) (4%). Array-CGH revealed loss of three BAC clones (BAC RP11-417P24 at 14q32.33 (start 106196305-end 106364512) resulted as a polymorphic variant; BAC RP11-255G12 in 14q22.1 (start 517905end 51944718); BAC RP11-164G17 in 14q24.2 (start 71439536-end 71465495) in which we have found a candidate gene (SLC8A3, human gene for member 3 of solute carrier family) for epilepsy (Nucaro et al, 2010). The BAC RP5-914B9 contains the DYNLRB1 gene (Dynein, light chain, roadblocktype 1) (Jiang et al, 2001) a known protein coding, strongly expressed in the brain.…”