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Skewed XCI and activity of the premutation are not associated with POF in fragile X premutation carriers. ? 2010 Wiley-Liss, Inc. ""The use of high-resolution microarray technology for investigation of patients with intellectual disability and/or congenital anomalies provided the unique possibility to identify new microdeletion/microduplication syndromes and discover the dosage sensitive genes, which are implicated in the manifestation of various genetic conditions. Microduplication of the 7p22.1 region, 1.7?Mb in size, has very recently been reported, representing the smallest interstitional 7p duplication, associated with specific facial features and speech delay. We report on a patient with an even PD0325901 purchase smaller 7p22.1 de novo microduplication, 1?Mb in size, detected in a 14.5-year-old patient with mild intellectual disability and similar facial dysmorphism, including macrocephaly, ocular hypertelorism, low-set ears, and other features. There are 15 RefSeq genes included in this duplication. ACTB gene is a strong candidate gene for the alteration of craniofacial development. Further cases with similar duplications will contribute to the delineation of a potential new microduplication syndrome of 7p22.1. ? 2012 Wiley Periodicals, Inc. ""This paper focuses on the influence of consanguinity on the occurrence of orofacial clefts. All patients with orofacial clefts registered at King Faisal Specialist Hospital and Research Center, Riyadh since June 1999 until December 2009 were included in this study. Patients were classified in two distinct groups: cleft lip with or without cleft palate (CL?��?P) and isolated cleft palate (CP). Chi-squared GRB10 test was used to test independence of variables. Intracluster correlation coefficient was estimated to assess the degree of concordance between siblings. Among 1,171 total patients, CL?��?P was found to be more common (64.0%). Males were more likely to be affected with CL?��?P (M:F?=?1.5:1) and females were more likely to be affected with CP (M:F?=?0.9:1; P?EPZ-6438 in vivo family history of clefts; family history was more likely to be positive for patients with CL?��?P than for patients with CP (33.6% vs. 22.0%; P?