Get your own Free Home Page
Record 1Deletion (9) (p13.1 p21.1). Scaglia F; Bodamer OA; Berend SA; Adam LR; Shaffer LG Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. American journal of medical genetics (UNITED STATES) Mar 13 2000, 91 (2) p113-5, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
We report on a 22-month-old girl with minor facial anomalies, global developmental delay, growth retardation, seizures, and leukoencephalopathy. Initial clinical assessment suggested the diagnosis of Williams syndrome. Results of fluorescence in situ hybridization testing for elastin were normal. However, chromosome analysis showed a 46,XX,del(9)(p13.1p21.1) karyotype in peripheral lymphocytes. Parental chromosomes were normal, indicating a de novo deletion. This patient's manifestations are compared with those of two other cases with overlapping deletions of the proximal short arm of chromosome 9. Copyright 2000 Wiley-Liss, Inc.
Record 2[The best of pediatric cardiology in 1999] L'essentiel de 1999 en cardiologie pediatrique. Kachaner J Service de Cardiologie Pediatrique, Hopital Necker-Enfants malades, Paris. Archives des maladies du coeur et des vaisseaux (FRANCE) Jan 2000, 93 (1 Spec No) p63-8, ISSN 0003-9683 Languages: FRENCH Summary Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL English Abstract
Paediatric cardiology is a dynamic field of progress for results. Those which have marked the year 1999 include the introduction of new techniques of cardiovascular imaging and interventional cardiology, and the new consequences of collaboration with workers in foetal cardiology and medical and molecular genetics. The advances in imaging are the result of those of microprocessors which enable three-dimensional reconstruction of ultrasonic, radiological or magnetic resonance images. This provides intracardiac or intravascular views which are very similar to those seen by the surgeon. This is a major tool for improving the diagnosis and treatment of congenital heart disease. Similarly, the introduction of programmes of tissue recognition enables fine ultrasonic analysis of the vascular wall and of endothelial function leading to the opening of a new chapter of preventive vascular medicine from the earliest age. Paediatric interventional cardiology has also progressed rapidly and the past year has been that of a consensus on the closure of a great number of atrial septal defects by new prostheses implanted and anchored in a simpler and safer manner. Prenatal diagnosis has become a crucial factor in the treatment and prognosis of congenital heart disease which is life-threatening in the first hours of life, explaining the benefit when this is applied to transposition of the great vessels or to coarctation of the aorta. Finally, advances in genetics have led to the identification of several genes of heart malformations and the correlations between interstitial microdeletions and syndromes often associated with heart disease: chromosome 22q11 and the Di George syndrome, chromosome 7q and the Williams syndrome. They have even allowed linking of myocardial and cerebellar abnormalities of a degenerative neuropathy (Friedreich's disease) to an abnormality of the mitochondrial respiratory chain, thus giving the opportunity of a real treatment. (23 Refs.)
Record 3De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. von Dadelszen P; Chitayat D; Winsor EJ; Cohen H; MacDonald C; Taylor G; Rose T; Hornberger LK Department of Obstetrics and Gynecology, Women's College Hospital, Toronto, Ontario, Canada. American journal of medical genetics (UNITED STATES) Feb 14 2000, 90 (4) p270-5, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
Supravalvular aortic stenosis may present as an isolated finding or as part of Williams syndrome. Williams syndrome is a contiguous gene syndrome associated with neurodevelopmental and multisystemic manifestations caused by hemizygous deletion at 7q11.23. We report on the prenatal and histopathological findings in a patient with a chromosome translocation involving the Williams syndrome critical region. The initial abnormality on fetal ultrasound was hydrops fetalis detected at 30 weeks and echocardiography showed narrowing of the aorta and the pulmonary arteries. The baby died shortly after delivery and an autopsy revealed diffuse tubular thickening with luminal narrowing of the aorta, aortic branches, and the pulmonary arteries. Histopathology showed dysplasia of the media with reduced elastic content and "cartwheel" arrangement of collagen, elastic, and muscle fascicles. The karyotype was 46,XX,t(6;7)(q27;q11.23). Three signals were detected using the Oncor fluorescent in situ hybridization probe for elastin-Williams syndrome (WSCR) suggesting that the break in chromosome 7 is within the elastin-Williams gene. This patient is of special interest because of the prenatal presentation and the chromosomal translocation involving the elastin-Williams syndrome locus.
Record 4Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype. Urban Z; Peyrol S; Plauchu H; Zabot MT; Lebwohl M; Schilling K; Green M; Boyd CD; Csiszar K Pacific Biomedical Research Center, University of Hawaii, Honolulu 96822, USA. Pediatric dermatology (UNITED STATES) Jan-Feb 2000, 17 (1) p12-20, ISSN 0736-8046 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome (WS) is a complex developmental disorder with multisystem involvement known to be the result of a microdeletion in the q11.23 region of chromosome 7. This deletion involves several genes, including the elastin gene. Although elastic fibers are important constituents of skin, little is known about the skin phenotype in WS patients. We have therefore studied the skin of four WS patients in which we've shown the deletion of one copy of the elastin gene. Physical examination and indirect immunofluorescent microscopy of elastin did not detect any major phenotypic or morphologic changes in the skin. We were able, however, to show subtle textural changes in skin and, by electron microscopy, that the amorphous component of elastic fibers in WS patients was consistently reduced when compared to normal controls. These findings indicate that deletion of one copy of the elastin gene results in reduced deposition of elastin in dermal elastic fibers, an altered elastic fiber ultrastructure, and a subclinical dermal phenotype in the children and young adult patients analyzed in this study.
Record 5STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion. Pezzi N; Prieto I; Kremer L; Perez Jurado LA; Valero C; Del Mazo J; Martinez-A C; Barbero JL Department of Immunology and Oncology, Centro Nacional de Biotecnologia, UAM Campus de Cantoblanco, Madrid E-28049, Spain. FASEB journal (UNITED STATES) Mar 2000, 14 (3) p581-92, ISSN 0892-6638 Languages: ENGLISH Document type: JOURNAL ARTICLE
Chromatin rearrangements in the meiotic prophase are characterized by the assembly and disassembly of synaptonemal complexes (SC), a protein structure that stabilizes the pairing of homologous chromosomes in prophase. We report the identification of human and mouse cDNA coding for stromalin 3 (STAG3), a new mammalian stromalin member of the synaptonemal complex. The stromalins are a group of highly conserved proteins, represented in several organisms from yeast to humans. Stromalins are characterized by the stromalin conservative domain (SCD), a specific motif found in all proteins of the family described to date. STAG3 is expressed specifically in testis, and immunolocalization experiments show that STAG3 is associated to the synaptonemal complex. As the protein encoded by the homologous gene (Scc3p) in Saccharomyces cerevisiae was found to be a subunit of a cohesin complex that binds chromosomes until the onset of anaphase, our data suggest that STAG3 is involved in chromosome pairing and maintenance of synaptonemal complex structure during the pachytene phase of meiosis in a cohesin-like manner. We have mapped the human STAG3 gene to the 7q22 region of chromosome 7; six human STAG3-related genes have also been mapped: two at 7q22 near the functional gene, one at 7q11.22, and three at 7q11.23, two of them flanking the breakpoints commonly associated with the Williams-Beuren syndrome (WBS) deletion. Since the WBS deletion occurs as a consequence of unequal meiotic crossing over, we suggest that STAG3 duplications predispose to germline chromosomal rearrangement within this region.
Record 6Chiari I malformation in asymptomatic young children with Williams syndrome: clinical and MRI study. Mercuri E; Atkinson J; Braddick O; Rutherford MA; Cowan FM; Counsell SJ; Dubowitz LM; Bydder G Visual Development Unit, University College London, UK. European journal of paediatric neurology (ENGLAND) 1997, 1 (5-6) p177-81, ISSN 1090-3798 Languages: ENGLISH Document type: JOURNAL ARTICLE We report clinical and magnetic resonance imaging findings in two young children, aged 2 years 4 months and 3 years, with Williams syndrome. Both showed a mild global delay, although their neurological examination was completely normal. Their magnetic resonance imaging, however, showed Chiari I malformation and some non-specific changes in the centrum semiovale and in the white matter posterior to the lateral ventricles. Cerebellar tonsils were displaced through the foramen magnum 8.5 and 7.5 mm respectively. Our results suggest that Chiari I malformation can also be a frequent feature in subjects with Williams syndrome even in the absence of overt neurological signs suggestive of it. Whether these children might develop acute signs later is not known at present. Further studies are needed not only to evaluate the incidence of these findings in the global population of subjects with Williams syndrome but also to identify the children who are at risk for developing acute neurological signs.
Record 7Williams syndrome and the elastin gene in Thai patients. Ruangdaraganon N; Tocharoentanaphol C; Kotchabhakdi N; Khowsathit P Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. Journal of the Medical Association of Thailand (THAILAND) Nov 1999, 82 Suppl 1 pS174-8, ISSN 0125-2208 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome (WS) has long been known as a complex disorder of dysmorphic facial features, described as elfin face, mental retardation or learning disability, loquacious personality, and supravalvular aortic stenosis. The etiology is now known to be due to deletion of the elastin gene (ELN) on long arm of chromosome 7. Thai patients were previously reported by clinical diagnosis. This study reports the first two cases of WS with ELN deletion diagnosed by fluorescent in situ hybridization (FISH) technique. Clinically, hyperacusis is a common finding in WS associated with otitis media. Neither of the patients had hyperacusis, but one of them had bilateral sensorineural hearing loss, which to our knowledge, has never been reported.
Get your own Free Home Page
