Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1 |
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Authors: | Utine G E Melotte C Vermeesch J R Fryns J P |
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Affiliation: | Department of Pediatrics, Division of Genetics, Hacettepe University, Ankara, Turkey. |
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Abstract: | A female with a de novo tandem duplication of 9q22.2-q31.1 is presented. Molecular delineation of the breakpoints was made by microarray CGH and fluorescent in situ hybridisation. Involvement of 9q22.2-q31.1 seems to be sufficient to produce the characteristic phenotype of partial trisomy 9q syndrome. A discussion on the recognizable clinical features of the condition is presented. |
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