We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed.

Despite growing empirical evidence to the contrary, claims continue to be made that the grammar of people with Williams syndrome (WS) is intact. We show that even in a simple elicited imitation task examining the syntax of relative clauses, older children and adults with WS (n = 14, mean age = 17;0 years) only reach the level of typical five-year-old controls. When tested systematically in a nu...

INTRODUCTION Observations of behaviour and research using eyetracking technology have shown that individuals with Williams syndrome (WS) pay an unusual amount of attention to other people's faces. The present research examines whether this attention to faces is moderated by the valence of emotional expression. METHOD Sixteen participants with WS aged between 13 and 29 years (mean = 19 years 9...

CHRISTINE D. STEWARD, J. KAMILE RASHEED, SUSANNAH K. HUBERT, JAMES W. BIDDLE, PATTI M. RANEY, GREGORY J. ANDERSON, PORTIA P. WILLIAMS, KELLEY L. BRITTAIN, ANTONIO OLIVER, JOHN E. MCGOWAN, JR., AND FRED C. TENOVER* Division of Healthcare Quality Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, and Rollins School of Public Health, Emory University, Atlanta, Georgia 3...

Health Physics and Radiological Health, 4th Edition. Johnson Thomas E., Birky Brian K., Lippincott Williams & Wilkins, a Walter Kluwer business, Baltimore, Maryland, 2012, $205.99. ISBN: 9781609134198, 1288 pp. (hardcover).

How does the levels of selection question relate to the ‘major evolutionary transitions’? Such transitions, as defined by Eörs Szathmáry and John Maynard Smith, occur when free-living biological units, capable of surviving and reproducing alone, coalesce into a single larger unit, giving rise to a new, higher-level individual — for example, in the evolution of multicelled organisms from single-...

microdeletion syndromes are contiguous gene deletion syndromes of less than 5 megabases.  most often, many of these syndromes are not detectable by  routine chromosomal analysis and require more specific testing techniques such as fish or more accurate general coverage like array comparative genomic hybridization.  as many of these syndromes are phenotypically recognizable and allow for easy cl...