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Updated: Aug 21, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Trisomy 9p. Report of two new cases]
M San Román Muñoz1, J L Herranz Fernández, A Tejerina Puente
1Sección de Neuropediatría, Hospital Universitario Marqués de Valdecilla, Universidad de Cantabria, Santander, Spain.
Abstract:
Trisomy 9p is a chromosome abnormality caused by duplication of the short arm of chromosome 9. Clinically it is characterized by psychomotor retardation, malformations that can affect various organs and sometimes epilepsy. Trisomy 9p may be the fourth most common autosomal trisomy, after trisomies 21, 13 and 18. Two new cases of trisomy 9p are described. Previous cases reported in Spain, associated clinical features, and the diagnostic and therapeutic approach to these patients are revised.
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