DELETION 1p36 SYNDROME

Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report

“…Deletions of chromosome 1p36 show an incidence of approximately 1 in 5000 newborns, making 1p36 deletion syndrome (1p36 DS) one of the most commonly observed deletion disorders and the most frequent terminal deletion in humans [1][2][3][4][5]. The reasons for both this relatively high population frequency and the fact that females seem to be affected significantly more often than males are unclear [2].…”

“…The reasons for both this relatively high population frequency and the fact that females seem to be affected significantly more often than males are unclear [2]. In contrast, it is well documented that the majority of cases (about 52%) are pure terminal deletions that occur de novo [5]. Further classes of rearrangements are: interstitial deletions (29%), complex chromosomal rearrangements (12%), e.g., 1p36 deletion with a 1p36 duplication, and a derivative chromosome 1 with the 1p telomeric region replaced by another chromosome portion (7%) [5] (p. 254).…”

“…In contrast, it is well documented that the majority of cases (about 52%) are pure terminal deletions that occur de novo [5]. Further classes of rearrangements are: interstitial deletions (29%), complex chromosomal rearrangements (12%), e.g., 1p36 deletion with a 1p36 duplication, and a derivative chromosome 1 with the 1p telomeric region replaced by another chromosome portion (7%) [5] (p. 254). Interestingly, 1p36 deletions mostly occur on the maternal chromosomes [2,5].…”

“…Further classes of rearrangements are: interstitial deletions (29%), complex chromosomal rearrangements (12%), e.g., 1p36 deletion with a 1p36 duplication, and a derivative chromosome 1 with the 1p telomeric region replaced by another chromosome portion (7%) [5] (p. 254). Interestingly, 1p36 deletions mostly occur on the maternal chromosomes [2,5]. However, no obvious differences in phenotypic expression could be found based on parentof-origin studies [2].…”

“…Other possible reasons for phenotypic variability are deletion location (e.g., terminal versus interstitial), incomplete penetrance, as well as epigenetic and stochastic factors [2,4]. Several genes have been identified in the most commonly deleted 1p36.33-1p36.32 band, which is the most gene-rich part of 1p36 [5].…”