871
views
0
recommends
+1 Recommend
1 collections
    0
    shares

      To submit to this journal, click here

      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Syndromes microdélétionnels (syndrome de Williams et syndrome de la délétion 22q11) au CHU Hassan II de Fès: à propos de 3 observations Translated title: The Cri du Chat syndrome: report of an observation

      other

      Read this article at

      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Les syndromes microdélétionnels sont définis par la présence d’une anomalie chromosomique de taille mineure (inférieure à 5 mégabases) ou aneusomie segmentaire, décelable par cytogénétique moléculaire (FISH : Fluorescent in Situ Hybridization). Les syndromes microdélétionnels représentent des syndromes cliniques avec des phénotypes suffisamment caractéristiques pour être reconnus cliniquement. Actuellement la FISH est la technique de choix pour rechercher ces syndromes. Plusieurs syndromes microdélétionnels peuvent être confirmés aisément, les plus recherchés sont Le syndrome de Williams (microdélétion en 7q11.23) et le syndrome de la délétion 22q11 (microdélétion en 22q11.2). Le syndrome de Williams est caractérisé par une anomalie du développement qui associe un retard psycho-moteur, une dysmorphie du visage évocatrice et un profil cognitif et comportemental spécifique, une sténose aortique supravalvulaire -SASV- le plus souvent. Le Syndrome de la délétion 22q11 se caractérise par l’association de plusieurs malformations d’expression variable: une cardiopathie congénitale de type conotroncal, une dysmorphie faciale discrète mais caractéristique et une hypoplasie du thymus et des parathyroïdes. Nous rapportons nos premières observations au CHU Hassan II confirmées par FISH : Syndrome de la délétion 22q11 (n:2) et un syndrome de Williams. Le but de cet article est la mise à jour de nos connaissances sur ces deux syndromes et la mise en valeur du rôle de la cytogénétique moléculaire dans le diagnostic et le conseil génétique des syndromes microdélétionnels.

          Most cited references23

          • Record: found
          • Abstract: found
          • Article: not found

          Clinical features of 78 adults with 22q11 Deletion Syndrome.

          22q11 Deletion Syndrome (22q11DS) is a common microdeletion syndrome with multisystem expression. Phenotypic features vary with age, ascertainment, and assessment. We systematically assessed 78 adults (36 M, 42 F; mean age 31.5, SD 10.5 years) with a 22q11.2 deletion ascertained through an adult congenital cardiac clinic (n = 35), psychiatric-related sources (n = 39), or as affected parents of subjects (n = 4). We recorded the lifetime prevalence of features requiring attention, with 95% confidence intervals (CI) not overlapping zero. Subtle learning difficulties, hypernasality and facial gestalt were not included. We investigated ascertainment effects using non-overlapping subgroups ascertained with tetralogy of Fallot (n = 31) or schizophrenia (n = 31). Forty-three features met inclusion criteria and were present in 5% or more patients, including several of later onset (e.g., hypothyroidism, cholelithiasis). Number of features per patient (median 9, range 3-22) correlated with hospitalizations (P = 0.0002) and, when congenital features were excluded, with age (P = 0.02). Adjusting for ascertainment, 25.8% (95% CI, 9.5-42.1%) of patients had cardiac anomalies and 22.6% (95% CI, 7.0-38.2%) had schizophrenia. Ascertainment subgroups were otherwise similar in median number and prevalence of features. Non-characteristic features are common in 22q11DS. Adjusting for ascertainment effects is important. Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms. Copyright 2005 Wiley-Liss, Inc
            Bookmark
            • Record: found
            • Abstract: not found
            • Article: not found

            Supravalvular aortic stenosis.

              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Natural history of Williams syndrome: physical characteristics.

              The natural history of Williams syndrome, including medical complications, growth patterns, and problems in adulthood, was investigated. A growth pattern characterized by delay in the first 4 years of life, catch-up growth in childhood, and low ultimate adult height was found. Despite multiple medical problems in infancy, including feeding problems, failure to thrive, colic, and otitis media, mean age at diagnosis was 6.4 years. Developmental disabilities and cardiovascular disease were the major concerns in childhood. The older children developed progressive joint limitation and hypertonia. Adult patients were handicapped by their developmental disabilities. Hypertension, and gastrointestinal and genitourinary problems occurred frequently. Independent living and competitive employment were limited less by the individual's physical problems than by the psychologic and adaptive limitations. Williams syndrome is a progressive disorder with multisystem involvement.
                Bookmark

                Author and article information

                Journal
                Pan Afr Med J
                Pan Afr Med J
                PAMJ
                The Pan African Medical Journal
                The African Field Epidemiology Network
                1937-8688
                12 January 2012
                2012
                : 11
                : 3
                Affiliations
                [1 ]Unité de Génétique Médicale et d’oncogénétique, Laboratoire centrale d’analyses Médicales, CHU Hassan II, Fès, Maroc
                [2 ]Service de Pédiatrie CHU Hassan II, Fès, Maroc
                Author notes
                [& ]Corresponding author: Ouldim Karim, Professeur Assistant. Génétique médicale. Unité de Génétique Médicale et d’Oncogénétique Laboratoire Central d’Analyses Médicales. Centre Hospitalier Universitaire Hassan II, B.P.1835 Atlas Fès, Royaume du Maroc
                Article
                PAMJ-11-03
                3283021
                22368746
                d24f7c68-2538-4c5e-8fa1-d3cd86af07e9
                © Karim Ouldim et al.

                The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 19 July 2011
                : 30 October 2011
                Categories
                Case Series

                Medicine
                fish,syndrome de williams,22q11,syndromes microdélétionnels
                Medicine
                fish, syndrome de williams, 22q11, syndromes microdélétionnels

                Comments

                Comment on this article