Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.

To the Editor : Microdeletions at 1q41q42.1 have been described in patients with a variable phenotype that in some cases is suggestive of Fryns syndrome (FS) (1). We have described a similar microdeletion (2) in a boy (hereafter named Patient 1) with clinical features of the dominant form of Robinow syndrome (DRS; 3–5). Here, we report a girl (Patient 2; Fig1a-c) diagnosed as having DRS based on the presence of short stature, limb shortening, facial dysmorphisms including hypertelorism, and hypoplastic genitalia who carries a de novo deletion encompassing the segment 1q41q42.2. Table 1 shows her clinical features. The deletion was detected after G-banding. Using 1 Mb array-comparative genomic hybridization (CGH) (6), it was mapped to a 9–11 Mb segment at 1q41q42.2 with the proximal breakpoint