Partial trisomy 9p and 14q microduplication in a patient with growth retardation: a case report and review of the literature

Abstract

AbstractBackgroundTrisomy is a common chromosomal aberration, which usually presents with similar phenotypic abnormalities and developmental delay. Although defined as chromosome abnormalities with recognized symptoms including growth retardation, trisomy 9p and trisomy 14q have been rarely reported to occur at the same time.Case presentationHere, we describe a 16-year-old adolescent female affected by developmental delay and mild intellectual disability. She was confirmed to have both partial trisomy 9p (p24.3-p23) and 14q11.2 microduplication by chromosome microarray analysis (CMA). It is speculated that the extra chromosome in the patient may be a derivative 14 chromosome inherited from the parent after 3:1 disjunction during meiosis. The extra 9p segment proves to be pathogenic while the duplicated 14q11.2 remains indefinite.ConclusionsFurther studies are needed to assign the genes responsible for the developmental delay and craniofacial dysmorphisms and appoint dosage-sensitive genes of chromosome 9p.