Inverted duplication and deletion of 10q25q26 in a patient without any obvious skeletal anomalies

摘要

We report on a girl with inverted duplication and deletion of 10q25q26 revealed by array-CGH and FISH analysis. Array-CGH analysis demonstrated a ～13.1-Mb duplication encompassing 10q25.3q26.2 and a ～5-Mb deletion at 10q26.2q26.3. No single-copy region was detected between the deleted and duplicated segments. FISH analysis found the arrangement duplicated in an inverted position. FISH analysis using the same probes did not show any abnormality in both parents, which indicates a de novo occurrence. The frequently reported features of distal 10q duplication include developmental delay, blepharophimosis, hypotonia, skeletal anomalies and some facial dysmorphisms. The girl presented with many features of distal 10q duplication with the exception of skeletal anomalies. To our knowledge, this is the fourth patient reported in the literature with inv dup del 10q. 10q duplication seems to account for most of the phenotypes for our patient. Although no obvious skeletal feature was found in our patient at present, follow-up assessment of skeletal development should be planned with the increase of age.