Exact(17)
Finally, as described previously [ 10], we set filters to discard possible DNA-based duplication cases.
Data represent mean ± SEM from four age-matched control and three duplication cases.
It appears that both deletion cases and duplication cases were lumped together in the burden test.
Data represent mean ± SEM from a total of three control and duplication cases.
Quantitative RT-PCR showed that total MECP2 mRNA was elevated in both the duplication cases and the deletion patient.
The evidence for association at the locus in the Irish/UK sample appeared to be driven by these duplication cases.
Similar(43)
The heterozygous duplication case is considered in Supplementary Figure S2.
We controlled for this by inspecting manually every duplication case to discard dubious cases.
We were able to obtain a detailed clinical history for one additional duplication case, which we now include in the manuscript.
Since the first report of a 15q duplication case including molecular data [Clayton-Smith, Webb, Cheng, Pembrey, & Malcolm, 1993], several individual case reports have been published, but a complete phenotypic description of the interstitial 15q duplication syndrome has never been established.
However, we could find only one such duplication case in the cytogenetic literature (15, 16), a 6-year-old child, who had a more severe neurological deficit, presumably due to the broader effects of his relatively large (11q11 11q13.3) duplication.
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