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Updated: Aug 11, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
De novo trisomy 16p
J L Carrasco Juan1, J C Cigudosa, A Otero Gómez
1Cytogenetics Service, Faculty of Medicine, University of La Laguna, Tenerife, Canary Islands, Spain.
Abstract:
We report on a patient with psychomotor retardation and a pattern of malformations comprising single umbilical artery, craniofacial anomalies, severe truncal hypotonia, and lower-limb hyporreflexia. G-banding cytogenetics demonstrated a 16p+ chromosome. Parental chromosomes were normal. The use of fluorescent in situ hybridization (FISH) showed that this extra material derived from chromosome 16. High-resolution G-banding demonstrated a duplicated segment on the 16p arm, confirming our suspicion of a de novo tandem duplication; hence, the cytogenetic diagnosis was given as 46,XY,dir dup(16)(p11.2-->p12).
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