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Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome
Author(s) -
Mazzeu JF,
ViannaMorgante AM,
Krepischi ACV,
Oudakker A,
Rosenberg C,
Szuhai K,
McGill J,
MacCraughan J,
Van Bokhoven H,
Brunner HG
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01355.x
Subject(s) - psychology , gerontology , medicine
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