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Trisomy 9 mosaicism is a rare chromosome abnormality with developmental disabilities, delayed speech, facial dysmorphism and organ pathologies, the phenotype usually differs among individuals. This study presents a proband and his sib with mosaic trisomy 9 but the clinical manifestations of the boy were more severe than his sister as the number of abnormal cells were more in the boy, this could highlight the existence of phenotypic/karyotype correlation and the association of the level of mosaicism with the severity of the phenotype. This report expands the clinical manifestations of this chromosomal abnormality as multiple areas of hyperpigmentation were noticed in these cases that to the best of our knowledge have not been reported before. *Correspondence to: Hala T El-Bassyouni, Clinical Genetics Department, National Research Centre, Cairo, Egypt, E-mail: halabassyouni@yahoo.com

Clinical and cytogenomic characterization of de novo trisomy 9 mosaicism in an Egyptian family: phenotype/karyotype correlation