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To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We estimate that ∼14.2% of disease in these children is caused by CNVs >400 kb. We observed a greater enrichment of(More)
In 1995, a consensus statement was published for the purpose of summarizing the salient clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and accurate diagnosis. Considering the scientific advances made in the last 10 years, it is necessary now to review the validity of the original consensus criteria. As in the original(More)
We report studies of six patients with the Angelman "Happy Puppet" syndrome and compare the data with those from previous reports. The results confirm the classic findings of severe mental retardation, "puppet-like" gait, characteristic craniofacial abnormalities, and frequent episodes of laughter and suggest that this syndrome is more common than(More)
Recent improvements in magnetic resonance imaging techniques now allow the developing brain to be visualized in sufficient detail to perform "in vivo neuropathology." In this study we compared the cortical morphology in six children with Angelman and four with Prader-Willi syndrome. These two syndromes are of special interest because, although they are both(More)
PURPOSE The primary goal of this case study was to describe the speech, prosody, and voice characteristics of a mother and daughter with a breakpoint in a balanced 7;13 chromosomal translocation that disrupted the transcription gene, FOXP2 (cf. J. B. Tomblin et al., 2005). As with affected members of the widely cited KE family, whose communicative disorders(More)
PURPOSE The aims of this study were (a) to locate the breakpoints of a balanced translocation (7;13) within a mother (B) and daughter (T); (b) to describe the language and cognitive skills of B and T; and (c) to compare this profile with affected family members of the KE family who have a mutation within FOXP2. METHOD The breakpoint locations for T and B(More)
We use GPS displacements collected in the 15 months after the 1999 Chi-Chi, Taiwan earthquake (M w 7.6) to evaluate whether post-seismic deformation is better explained by afterslip or viscoelastic relaxation of the lower crust and upper mantle. We find that all viscoelas-tic models tested fail to fit the general features in the post-seismic GPS(More)
Eleven individuals with Prader-Willi syndrome and 10 control subjects who had mental retardation due to other causes (with and without overeating histories) participated in two experiments on food preferences. They gave preference rankings for various foods, then chose between a small amount of their most preferred food and an alternative choice of a larger(More)
This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on the neuroscience of UBE3A. Angelman syndrome is characterized by loss of speech, severe developmental delay, seizures, and ataxia. These core symptoms are caused by maternal allele disruptions of a single gene-UBE3A. UBE3A encodes an E3 ubiquitin ligase that(More)