Get your own Free Home Page
Record 1The Williams syndrome cognitive profile. Mervis CB; Robinson BF; Bertrand J; Morris CA; Klein-Tasman BP; Armstrong SC University of Louisville, Louisville, KY 40292, USA. [email protected] Brain and cognition (UNITED STATES) Dec 2000, 44 (3) p604-28, ISSN 0278-2626 Languages: ENGLISH Document type: Journal Article
Williams syndrome is a rare neurodevelopmental disorder caused by a hemizygous deletion of approximately 1.5 megabases on chromosome 7q11.23. In this article, we outline a Williams Syndrome Cognitive Profile (WSCP) that operationalizes the cognitive characteristics of the syndrome using measures of absolute and relative performance on subtests of the Differential Abilities Scales (Elliot, 1990a). Testing confirmed excellent sensitivity and specificity scores for the WSCP. Seventy-four of 84 individuals with Williams syndrome fit the WSCP while only 4 participants in a contrast group met all of the WSCP criteria. It was also found that the WSCP does not vary greatly with chronological age or overall level of cognitive ability for individuals with Williams syndrome. Possible applications for the WSCP include psychoeducational evaluation and empirical research such as the search for genotype/phenotype relations in this genetically based syndrome. Copyright 2000 Academic Press.
Record 2Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. Doyle JL; DeSilva U; Miller W; Green ED Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Cytogenetics and cell genetics (SWITZERLAND) 2000, 90 (3-4) p285-90, ISSN 0301-0171 Languages: ENGLISH Document type: Journal Article
Williams syndrome (WS) is a contiguous gene deletion disorder resulting in complex and intriguing clinical features. Detailed molecular characterization studies of the genomic segment on human chromosome 7q11.23 commonly deleted in WS have uncovered numerous genes, each of which is being actively studied for its possible role in the etiology of the syndrome. Our efforts have focused on the comparative mapping and sequencing of the WS region in human and mouse. In previous studies, we uncovered important differences in the long-range organization of these human and mouse genomic regions; in particular, the notable absence of large duplicated blocks of DNA in mouse that are present in human. Aided by available genomic sequence data, we have used a combination of gene-prediction programs and cDNA isolation to identify the human and mouse orthologs of a novel gene (WBSCR15 and Wbscr15, respectively) residing within the genomic segment commonly deleted in WS. Unlike the flanking genes, which are closely related in human and mouse, WBSCR15 and Wbscr15 are strikingly different with respect to their cDNA and corresponding protein sequences as well as tissue-expression pattern. Neither the WBSCR15- nor Wbscr15-encoded amino acid sequence shows a statistically significant similarity to any characterized protein. These findings reveal another interesting evolutionary difference between the human and mouse WS regions and provide an additional candidate gene to evaluate with respect to its possible role in the pathogenesis of WS. Copyright 2000 S. Karger AG, Basel.
Record 3[Physician or seer? Very early diagnosis and prognosis. The example of William's syndrome] Medecin ou devin? Diagnostic tres precoce et anticipation. Exemple du syndrome de Williams. Ollivier AM Centre d'assistance educative du tout-petit, centre d'action medicosociale precoce de l'entraide universitaire, Paris, France. Archives de pediatrie (FRANCE) Nov 2000, 7 (11) p1221-7, ISSN 0929-693X Languages: FRENCH Document type: Journal Article
Recent major breakthroughs in the field of genetics have allowed very early diagnosis of many genetic diseases. This is usually considered as beneficial progress. But is it that simple? Which information is given to the parents? How useful is it? And for whom? How will it influence the child's development? The case of three children with Williams' syndrome and the current knowledge on the cognitive and behavioural phenotype of this syndrome provide food for thought on these questions. Answers can be neither unique nor final. The purpose is not to deny present knowledge or tomorrow's discoveries, but rather to take time to think about the consequences of a very early diagnosis announcement, particularly the anticipation of the handicap that it carries.
Record 4[Williams syndrome(Williams-Beuren syndrome), elfin face syndrome] Ehara H Division of Child Neurology, Faculty of Medicine, Tottori University. Ryoikibetsu shokogun shirizu (JAPAN) 2000, (30 Pt 5) p263-5, Languages: JAPANESE Document type: Journal Article; Review; Review, Tutorial (26 Refs.)
Record 5[Contiguous gene syndromes] Kishino T; Niikawa N Department of Human Genetics, Nagasaki University School of Medicine. Ryoikibetsu shokogun shirizu (JAPAN) 2000, (30 Pt 5) p118-22, Languages: JAPANESE Document type: Journal Article; Review; Review, Tutorial (11 Refs.)
Record 6Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor. Pascual J; Martinez-Yamout M; Dyson HJ; Wright PE Department of Molecular Biology and Skaggs Institute for Chemical Biology, The Scripps Research Institute, 10550 North Torrey Pines Rd, La Jolla, CA 92037, USA. Journal of molecular biology (ENGLAND) Dec 15 2000, 304 (5) p723-9, ISSN 0022-2836 Languages: ENGLISH Document type: Journal Article
The PHD (plant homeo domain) is a approximately 50-residue motif found mainly in proteins involved in eukaryotic transcription regulation. The characteristic sequence feature is a conserved Cys(4)-HisCys(3) zinc binding motif. We have determined the solution structure of the PHD motif from the human Williams-Beuren syndrome transcription factor (WSTF) protein. The domain folds into an interleaved zinc finger which binds two Zn(2+) in a similar manner to that of the RING and FYVE domains. The structure reveals a conserved zinc-binding core, together with two variable loops that are likely candidates for interactions between the various PHD domains and their specific ligands. Copyright 2000 Academic Press.
Record 7Williams syndrome and happiness. Levine K; Wharton R Building Blocks, Peabody, Massachusetts 01960, USA. American journal of mental retardation (UNITED STATES) Sep 2000, 105 (5) p363-71, ISSN 0895-8017 Languages: ENGLISH Document type: Journal Article; Review; Review, Tutorial
Williams syndrome is a genetic disorder resulting in a variety of medical and developmental features, one of which is a frequent outward presentation of substantial happiness. In this paper we describe the unique expression of happiness in people with Williams syndrome, with several anecdotes and a frame by frame conversational analysis. We then discuss this happiness in the context of other dimensions of the impact of Williams syndrome, especially anxiety. We conclude with a discussion of the role of genetics in emotions. (9 Refs.)
Record 8Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). Valero MC; de Luis O; Cruces J; Perez Jurado LA Servicio de Genetica, Hospital Universitario La Paz, Paseo de la Castellana 261, Madrid, 28046, Spain. Genomics (UNITED STATES) Oct 1 2000, 69 (1) p1-13, ISSN 0888-7543 Languages: ENGLISH Document type: Journal Article
Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. A common deletion including at least 16-17 genes has been defined in the great majority of patients. We have completed a physical and transcription map of the WBS region based on analysis of high-throughput genome sequence data and assembly of a BAC/PAC/YAC contig, including the characterization of large blocks of gene-containing low-copy-number repeat elements that flank the commonly deleted interval. The WBS deletions arise as a consequence of unequal crossing over between these highly homologous sequences, which confer susceptibility to local chromosome rearrangements. We have also completed a clone contig, genetic, and long-range restriction map of the mouse homologous region, including the orthologues of all identified genes in the human map. The order of the intradeletion genes appears to be conserved in mouse, and no low-copy-number repeats are found in the region. However, the deletion region is inverted relative to the human map, exactly at the flanking regions. Thus, we have identified an evolutionary inversion with chromosomal breakpoints at the sites where the human 7q11.23 low-copy-number repeats are located. Additional comparative mapping suggests a model for human chromosome 7 evolution due to serial inversions leading to genomic duplications. This high-resolution mouse map provides the framework required for the generation of mouse models for WBS mimicking the human molecular defect. Copyright 2000 Academic Press.
Record 9Medial telangiectatic sacral nevi (Types A and C) associated with Williams syndrome. Schepis C; Greco D; Bosco P; Ragusa A; Romano C Dermatology (SWITZERLAND) 2000, 201 (3) p285-6, ISSN 1018-8665 Languages: ENGLISH Document type: Letter
Record 10The middle aortic syndrome: an important feature of Williams' syndrome. Radford DJ; Pohlner PG Queensland Centre for Congenital Heart Disease, The Prince Charles Hospital, Brisbane, Australia. [email protected] Cardiology in the young (England) Nov 2000, 10 (6) p597-602, ISSN 1047-9511 Languages: ENGLISH Document type: Journal Article
The middle aortic syndrome, with diffuse narrowing of the thoracic and abdominal aorta, was present in 10 of 18 patients with Williams' syndrome (55%). There were 3 thoracic coarctations, and 2 abdominal coarctations, with gradients greater than 20 mmHg across the zone of narrowing. Seven patients had mild renal arterial stenosis, and 6 had visceral arterial stenoses. Ten were hypertensive. Measured dimensions of the aortic lumen failed to increase with age in 3 males who had serial angiographic studies. One developed mesenteric arterial stenosis, with mild bilateral renal arterial stenoses, between the ages of 9 and 19 years. Aortic intravascular ultrasound performed in 2 patients confirmed abnormally thick vessel walls with small lumens. Diffusely narrowed and thick-walled stiff arteries, lacking elastin, are a feature of Williams' syndrome. The arteriopathy tends to progress with age, and systemic hypertension is common in teenagers and beyond. The middle aortic syndrome was present in more than half our patients, and does not necessarily reflect a bias because of cardiologic referral. Aortography with measurement of aortic diameters and delineation of the visceral branches is an important requirement for complete evaluation of patients with Williams' syndrome.
Record 11Dental anomalies in Williams syndrome. Kashyap AS; Sharma HS; Kumar P Department of Medicine Armed Forces Medical College Pune 411040, India. Postgraduate medical journal (ENGLAND) Nov 2000, 76 (901) p712, ISSN 0032-5473 Journal Code: PFX Languages: ENGLISH Document type: Journal Article
Get your own Free Home Page
