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Updated: May 9, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome
Alberto Plaja1, Elisabet Lloveras, Cristina Martinez-Bouzas
1Citogenética, General Lab-Laboratoris d'Anàlisis, Barcelona, Spain.
Abstract:
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.
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