Case report Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin I. López-Exposito a, * , E. Guillén-Navarro b , J.A. Bafallíu a , M. Carmen Bernabé a , A. Escalona c , C. Fuster c a Seccion de Citogenetica, Centro de Bioquimica y Genetica Clinica, Hospital universitario Virgen de la Arrixaca, El Palmar, 30120 Murcia, Spain b Unidad de Genética Médica y Dismorfología, Servicio de Pediatría, Hospital universitario Virgen de la Arrixaca, Murcia, Spain c Unitat de Biología Celular i Genética Médica, Fac. Medicina, Universitario Autónoma de Barcelona, Spain Available online 23 June 2006 Abstract Pericentric inversion of chromosome 19 appears to be a rare abnormality with only a few families re- ported. As far as we are aware, none of them were ascertained because of a recombinant individual. We describe the first identified case due to an affected patient, with duplication deficiency for chromosome 19 arising from a maternal inversion confirmed by FISH and CGH. His features included prenatal growth retardation, microcephaly, dysmorphic facies, congenital heart defect, hypoplasia of corpus callo- sum and psychomotor delay. The identification of recombinant individuals contribute to calculate a pre- cise risk for inv (19) carriers and to provide a more accurate genetic counselling. © 2006 Elsevier Masson SAS. All rights reserved. Keywords: Cardiac defect; Dysmorphic features; Duplication 19q; Deletion 19p; FISH; CGH; Pericentric inversion; Psychomotor retardation 1. Introduction Excluding the variant forms, pericentric inversions are a fairly uncommon rearrangement with an estimated frequency of 0.12-0.7% [6]. It seems that pericentric inversions are more fre- http://france.elsevier.com/direct/ejmg European Journal of Medical Genetics 49 (2006) 511–515 * Corresponding author. E-mail address: isabel.lopez4@carm.es (I. López-Exposito). 1769-7212/$ - see front matter © 2006 Elsevier Masson SAS. All rights reserved. doi:10.1016/j.ejmg.2006.05.002