Premium
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
Author(s) -
Piccione Maria,
Vecchio Davide,
Cavani Simona,
Malacarne Michela,
Pierluigi Mauro,
Corsello Giovanni
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34275
Subject(s) - non allelic homologous recombination , deletion syndrome , epilepsy , genetics , gene duplication , congenital malformations , phenotype , chromosome , medicine , gene , pediatrics , biology , psychiatry , recombination , pregnancy , genetic recombination
Chromosome 22, particularly the q11.2 sub‐band, has long been recognized as responsible for multiple congenital anomaly disorders. In particular, its susceptibility to subtle microdeletions or, more rarely, microduplications has been attributed to the presence of several low‐copy repeats spanning the region as mediators of nonallelic homologous recombination that result in 22q11.2 rearrangements. While recent data suggest that the frequency of 22q11.2 microduplications could be approximately half of all deletions, now only 50 unrelated cases have been reported thus far. However, it is reasonable to suppose that microduplications of 22q11.2 may be largely undetected as a result of a less‐distinct, unpredictable, and/or milder phenotype ranging from normal to mild learning difficulties with/without other multiple defects. We report on the first case of myoclonic epilepsy in a 10‐year‐old boy carrying a de novo 22q11.2 microduplication. Emphasizing that this rare association could be one of the many unrecognized aspects underlying this new emerging syndrome and once again its clinical heterogeneity, we suggest further investigation of the function of the RAB36 gene and propose that in the screening of individuals with developmental delay, minor behavioral problems mild dysmorphology and seizures, investigation of 22q11.2 microduplications should be considered. © 2011 Wiley Periodicals, Inc.