The Spectacular Advanced GRB10 Blueprint Exposed By My Buddy

1 detected with array comparative genomic hybridization and confirmed by real-time PCR. These patients share remarkably similar clinical features including microcephaly, mild developmental delay, generalized joint laxity, and a body posture with knee and elbow flexion and hands held in midline. They have distinctive facial features which include long midface with retrognathia with overbite, and protruding ears. The deletions in both patients are the smallest ever reported in this region (approximately 252 and 219?kb). The overlapping region contains 18 genes. Various isolated deletions of the17p13.1 click here region have been reported previously without delineation of a consistent phenotype. We propose that the described microdeletions in the distal portion of 17p13.1 represent a novel microdeletion syndrome. ? 2012 Wiley Periodicals, Inc. Array comparative genome hybridization (array CGH) has become a standard diagnostic tool in the investigation of children with intellectual disability and has led to the identification of a growing number of new microdeletion and microduplication syndromes. Deletions in the 17p13.1 region were first reported in two patients in 2009 [Adam et al., 2009]. Since then Selleckchem EPZ 6438 10 more patients with developmental delay and 17p13.1 microdeletions have been described with deletions ranging from approximately 0.29 to 4.44?Mb [Krepischi-Santos et al., 2009; Schluth-Bolard et al., 2009; Schwarzbraun et al., 2009; Shlien et al., 2010]. No common phenotype has been delineated in these 12 patients to date, although Shlien et al. [2010] postulated that the features of their GRB10 four reported patients were sufficiently alike to represent a microdeletion syndrome. We describe two unrelated patients with distinctive facial features, microcephaly, joint laxity, an unusual body posture, mild developmental delay, and intellectual disability, who have very small overlapping de novo deletions in distal 17p13.1. The deletions are similar in size and position and appear to confer a specific phenotype. This is a 10-year-old boy born to healthy nonconsanguineous Caucasian parents. He has an older sister who is healthy and the family history is unremarkable. He was born by spontaneous vaginal vertex delivery at 35 weeks of gestation weighing 2,863?g (25�C50th centile) following an uncomplicated pregnancy. At that time he had a normal physical exam and there were no neonatal complications. He was referred for a genetics consultation at the age of 2 years for developmental and gross motor delay. At the time, he had a functional level of 6�C12 months of age. He had no words, but was babbling. He had no trouble feeding and was able to hold a fork properly. He was able to roll and pull himself up. Head circumference was 46?cm (