UNASSIGNED: 2q37.3 deletion syndrome belongs to the chromosomal 2q37 deletion spectrum which clinically resembles @entity29257 . It is is mainly characterized by @entity851 , @entity28 , round face, brachydactyly type E, @entity717 , @entity146 , and variable @entity51 . Different from classical @entity29257 , @entity1 with 2q37 deletion syndrome lack renal parathyroid hormone resistance ( @entity9474 ) and soft tissue ossification. So far, deletion mapping or molecular breakpoint analyses of 2q37 have been performed in only few @entity1 . Here, we report on 2 @entity1 with 2q37.3 deletion syndrome. In both @entity1 the breakpoint of the 5.5-Mb terminal microdeletion could be narrowed down to the same    200-kb interval on 2q37.3 by BAC-FISH and/or array-CGH. Flanking low-copy repeats may indicate a classical microdeletion syndrome genesis for the 2q37.3 microdeletion subgroup. Clinical evaluation revealed @entity51 and type E brachydactyly typical for classical @entity29257 together with distinctive @entity154 not present in the former. Furthermore, one @entity1 presented with @entity716 , an observation that would be in accordance with previous reports about an association between @entity161 susceptibility and an unknown gene within the chromosomal region 2q37.    2015 S. Karger AG, Basel.

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with XXXX , and Shared Deletion Breakpoint Region on 2q37.3.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity9474 :: ('MESH:D011547', 'Disease') :: ['pseudohypoparathyroidism'] @entity154 :: ('MESH:D000013', 'Disease') :: ['facial dysmorphisms'] @entity851 :: ('MESH:D006130', 'Disease') :: ['short stature'] @entity28 :: ('MESH:D009765', 'Disease') :: ['obesity'] @entity146 :: ('MESH:D001523', 'Disease') :: ['behavioral problems'] @entity29257 :: ('MESH:C537045', 'Disease') :: ['Albright hereditary osteodystrophy (AHO) syndrome', 'AHO syndrome'] @entity51 :: ('MESH:D009461', 'Disease') :: ['intellectual deficits'] @entity161 :: ('MESH:D012559', 'Disease') :: ['schizophrenia'] @entity716 :: ('MESH:D011605', 'Disease') :: ['schizophrenic psychosis'] @entity717 :: ('MESH:D009069', 'Disease') :: ['intellectual disability']
@entity716 :: (MESH:D011605,Disease) :: ['Schizophrenic Psychosis']
