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Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay

Yun Mi Park, Han Nae Nho, Sook Za Kim, Young Min Ahn

Clin Exp Pediatr. 2008;51(4):426-430. Published online April 15, 2008

We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the...

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