Plaja A.,General Laboratory Laboratoris dAnalisis |
Plaja A.,Autonomous University of Barcelona |
Lloveras E.,General Laboratory Laboratoris dAnalisis |
Martinez-Bouzas C.,Hospital Universitario Cruces |
And 9 more authors.
American Journal of Medical Genetics, Part A | Year: 2013
We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality. © 2013 Wiley Periodicals, Inc.