DEFECT 11 syndrome associated with agenesis of the corpus callosum

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects

“…Among these additional characteristics are structural brain abnormalities that have been added recently to the clinical spectrum after detailed clinical analysis of patients by CT and MRI. Also the only patient from this study for whom MRI data was available (patient 1) showed hypoplasia of the vermis and cerebellar hemispheres, similar to the cases described by Wuyts et al 3 and Yamamoto et al 4 This suggests that these brain malformations may be under-recognised in previous reports in which no CT or MRI was performed and they may represent a more common feature of P11pDS.…”

“…Mild facial dysmorphism with brachycephaly and high forehead has been described in several patients, 1,4,8,10,17 but clear-cut craniofacial dysmorphism was only reported in a single patient (patient 3 of this report). In this study, we observed Myopia is a common condition with heterogeneous aetiology as it is found in monogenic disorders of dominant (e.g.…”

“…Review of the literature defines two candidate regions for the gene(s) causing profound MR in P11pDS: a distal region of approximately 3.2 Mb between D11S905 (41.01 Mb) 3,4 and the EXT2 intragenic marker D11S903 (44.20 Mb) and a proximal 1.2 Mb region between D11S554 (44.96 Mb) and D11S1344 (46.19 Mb). 1,3,4 The patients described here show profound or severe MR and their respective deletions include the proximal MR region. At the distal side, however, the borders of the deletion extend much less distal compared to previous described P11pDS patients with severe MR and they reduce the distal MR candidate region to approximately 1.2 Mb between D11S1355 (42.96 Mb) and D11S903 (44.20 Mb).…”

“…More detailed clinical analysis in recent papers have added additional characteristics of this syndrome, including complex malformations of the brain. 3,4 All patients have cytogenetic and/or molecular deletions of chromosome 11p11 -p13 located in a B20 cM region between the centromere and D11S914, with the severity of the clinical spectrum being related to the extent of the deletion. 1 Since the original report, review of the literature and additional studies have identified additional patients, but P11pDS remains very rare with less than 20 well described patients.…”

11p13 Deletion Syndrome: First Case in Morocco Detected by FISH

“…first in 2001 by Yamamoto et al The presence of ACC associated with DEFECT 11 syndrome suggests the presence of gene(s) responsible for it in the proximal portion of the short arm of chromosome 11 [15]. ACC is a common brain malformation seen in various etiologies, including associations with structural chromosome rearrangement [16].…”