BACKGROUND: Partial tetrasomy is mainly described as a cytogenetically visible rearrangement due to a supernumerary chromosome (i(12p), i(18p), @entity30946 dup(15)). Except for chromosome 15q11q13, intrachromosomal triplications are rare and so far not associated with a recognisable phenotype. METHODS AND RESULTS: This report describes two unrelated @entity1 with a de novo non-recurrent submicroscopic interstitial triplication 11q24.1 detected with array comparative genomic hybridisation and confirmed by fluorescence in situ hybridisation, molecular combing, and quantitative PCR. Microsatellite analysis suggested that a common mechanism of rearrangement might have been involved. These @entity1 share remarkably similar clinical features including distinctive @entity154 , @entity851 with small extremities, @entity9042 , overweight, and @entity717 . The overlapping region of 1.8 Mb contains 11 RefSeq genes and three microRNA related genes. Interestingly, the overexpression of @entity48948 , a gene encoding an adipocyte specific adhesion molecule, may contribute to @entity1 ' @entity28 . Upregulation of BILD, known to mediate apoptosis in a caspase dependent manner, could deserve further investigation into the pathological mechanism of @entity9042 . CONCLUSION: Isolated duplications of distal 11q region have been previously reported and associated with @entity717 but without a consistent set of clinical features. These findings support the proposal that microtriplication 11q24.1 is a well recognisable clinical entity.

Microtriplication of 11q24.1: a highly recognisable phenotype with @entity851 , distinctive facial features, XXXX , overweight, and @entity717 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity154 :: ('MESH:D000013', 'Disease') :: ['facial dysmorphisms'] @entity851 :: ('MESH:D006130', 'Disease') :: ['short stature'] @entity28 :: ('MESH:D009765', 'Disease') :: ['obesity'] @entity30946 :: ('27130', 'Gene') :: ['inv'] @entity9042 :: ('MESH:D007640', 'Disease') :: ['keratoconus'] @entity717 :: ('MESH:D009069', 'Disease') :: ['intellectual disability'] @entity48948 :: ('79827', 'Gene') :: ['ASAM']
@entity9042 :: (MESH:D007640,Disease) :: ['keratoconus']
