Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration


  • Conflict of interest: none.

Correspondence to:

Maria-Isabel Tejada, Laboratorio de Genética Molecular, Servicio de Genética, BioCruces Health Research Institute, Hospital Universitario Cruces, Plaza de Cruces s/n, 48903 Barakaldo, Bizkaia, Spain.



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.