Gaby Schobers

Publications (2)2.39 Total impact

• Source

  Available from: Conny van Ravenswaaij-Arts

  Dataset: Kleefstra sSMC 15 AJMG 2010

  Willy M Nillesen, Pino J Poddighe, Conny M A van Ravenswaaij-Arts, Ilse Feenstra, Gaby Schobers, Nicole de Leeuw, Tjitske Kleefstra, Hanneke Mieloo, Marjolein Willemsen, Jos Draaisma, Concetta Simona Perrotta, Roy Wolf
• Source

  Available from: Conny van Ravenswaaij-Arts

  Article: Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature

  Tjitske Kleefstra, Nicole de Leeuw, Roy Wolf, Willy M. Nillesen, Gaby Schobers, Hanneke Mieloo, Marjolein Willemsen, Concetta Simona Perrotta, Pino J. Poddighe, Ilse Feenstra, Jos Draaisma, Conny M.A. van Ravenswaaij-Arts
  [show abstract] [hide abstract]
  ABSTRACT: Supernumerary marker chromosomes (SMC) originating from chromosome 15 are the most common SMCs. They encompass clinically irrelevant SMC(15)s containing only heterochromatin and 15p material, and clinically relevant SMC(15)s that consist of both eu- and heterochromatic 15q material. On the basis of size, the clinically relevant SMC(15)s can be subdivided into type A, “large” asymmetric and type B, “small” symmetric SMC(15)s. Type B SMC(15)s contain the triplicated 15pter to BP3 (located at 26.5 Mb) region, while type A SMC(15)s consist of 15pter → BP4(28.5 Mb)::BP5(30.5 Mb) → 15pter. In this study, the clinical and molecular features of 18 patients with A and B SMC(15)s and two patients with a partial trisomy 15q were reviewed. Questionnaires (including Child Behavior Check Lists) were used to assess behavior and developmental features in more detail. The marker size and parental origin were determined by multiplex ligation-dependent probe amplification (MLPA). Based on the MLPA results, the majority of patients (14/18) had type A SMC(15)s. The phenotype observed did not show significant differences between types A and B SMC(15)s. A high prevalence of autistic-like behavior, attention problems, aggressive behavior, anxiety, and sleeping problems was reported. Motor and speech development varied extensively among the patients. An association was found between positive seizure history and degree of intellectual disability. © 2010 Wiley-Liss, Inc.
  American Journal of Medical Genetics Part A 08/2010; 152A(9):2221 - 2229. · 2.39 Impact Factor