A patient with a de novo t lpar;6;9rpar; and an interstitial duplication of lpar;9rpar;lpar;q21period;2q22period;1rpar;

摘要

We report on a 4-year-old child with psychomotor retardation, general hypotonia and only mild dysmorphic features. Her chromosome constitution was 46.XX, t (6;9) (q27;q22.l), dup (9)(q21.2q22.1). This de novo interstitial duplication was confirmed using fluorescence in situ hybridisation (FISH) with band-specific probes. This is the second report of a patient with an interstitial duplication of this region of the long arm of chromosome 9. It is concluded that in a child with an abnormal phenotype and a de novo (apparently)) balanced translocation, the possibility of a small duplication or deletion should be considered.