title: 11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.
abstract: Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligation-dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay.
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Jurkiewicz
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.|Department of Child and Adolescent Psychiatry, Medical University of Warsaw, Warsaw, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Kugaudo
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Tańska
authors.affiliation: Prenatal Diagnostic and Genetic Clinic, Medical University of Silesia, Zabrze, Poland.
authors.forename: Angelika
authors.initials: A
authors.lastname: Wawrzkiewicz-Witkowska
authors.affiliation: Prenatal Diagnostic and Genetic Clinic, Medical University of Silesia, Zabrze, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Tomaszewska
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Marzena
authors.initials: M
authors.lastname: Kucharczyk
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Cieślikowska
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Ciara
authors.affiliation: Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Krajewska-Walasek
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005168:Factor VII Deficiency / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D060885:Multiplex Polymerase Chain Reaction
keywords: 11p15 duplication; 13q34 deletion; Beckwith-Wiedemann syndrome; factor VII deficiency; unbalanced chromosomal translocation