De novo 11q13.4q14.3 tetrasomy with XXXX for 11q14.3qter.

@entity1 @entity154 @entity75 @entity245 @entity299 @entity76 @entity6789 @entity4242 @entity717 @entity8882
UNASSIGNED: Interstitial triplications in conjunction with @entity8882 ( @entity8882 ) have been rarely reported. Here we report on a @entity1 with de novo triplication at 11q13.4-q14.3 and @entity8882 for 11q14.3-qter. Chromosomal analysis showed a karyotype of 46, XYqh+, der (11), and normal parental karyotypes. A single nucleotide polymorphism (SNP) array detected an 18.7   Mb copy number gain consistent with tetrasomy for 11q13.4-q14.3 (chr11:71,002,347 bp-89,725,167 bp, hg19) and absence of heterozygosity for a 45   Mb stretch on 11q and consistent with @entity8882 at 11q14.3-qter (chr11:89,843,477 bp-134,930,689 bp, hg19) in our @entity1 . FISH analysis using two probes on both sides of the tetrasomic region showed an inverted 11q13.4-q14.3 region between two direct oriented 11q13.4-q14.3 segments (11q13.4-q14.3::11q14.3-q13.4::11q13.4-qter). Previously reported features of duplication overlapping 11q13-q14 showed clinical variability. Our @entity1 presented with some of those frequently described features, such as @entity245 , @entity154 , and @entity4242 but without @entity299 . Moreover, our @entity1 had in addition a @entity75 ( @entity76 and partial absence of @entity6789 ) which has not been reported. To our knowledge, this is the sixth @entity1 reported an intrachromosomal triplication together with @entity8882 . Interstitial 11q duplication overlapping 11q13-q14 is associated with @entity717 / @entity245 , @entity4242 , and @entity154 but also other malformations.    2015 Wiley Periodicals, Inc.
