Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies.

A total of 29 elements, out of the 481 described UCEs, were contained in 13 of the 26 pathogenic gains or losses detected in our series, what represents a highly significant enrichment of ultraconserved elements.

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This absence of ultraconserved elements among benign CNVs almost reached significance (see Table 2 ), in accordance with previous studies described above.

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