Chromosome 22, particularly the q11.2 sub-band, has long beenrecognized as responsible for multiple congenital anomaly disorders.In particular, its susceptibility to subtle microdeletionsor, more rarely, microduplications has been attributed to thepresence of several low-copy repeats spanning the region asmediators of nonallelic homologous recombination that resultin 22q11.2 rearrangements. While recent data suggest that thefrequency of 22q11.2 microduplications could be approximatelyhalf of all deletions, now only 50 unrelated cases have beenreported thus far. However, it is reasonable to suppose thatmicroduplications of 22q11.2 may be largely undetected as aresult of a less-distinct, unpredictable, and/or milder phenotyperanging from normal to mild learning difficulties with/withoutother multiple defects. We report on the first case of myoclonicepilepsy in a 10-year-old boy carrying a de novo 22q11.2 microduplication.Emphasizing that this rare association could be oneof the many unrecognized aspects underlying this new emergingsyndrome and once again its clinical heterogeneity, we suggestfurther investigation of the function of the RAB36 gene andpropose that in the screening of individuals with developmentaldelay, minor behavioral problems mild dysmorphology andseizures, investigation of 22q11.2 microduplications should beconsidered.
|Numero di pagine||6|
|Rivista||AMERICAN JOURNAL OF MEDICAL GENETICS. PART A|
|Stato di pubblicazione||Published - 2011|
All Science Journal Classification (ASJC) codes