Sentence examples for duplication carrier from inspiring English sources

Alternatively, MECP2 duplication carrier females display extreme XCI skewing (85%100%%) favoring inactivation of the duplicated allele [ 20].

These positions were hypermethylated in his RevSex duplication carrier father (P < 0.01).

This indicated that the three lamin B1 gene copies in a duplication carrier were equally expressed.

In the XX-DSD case, the ratio was 7 10, while his RevSex duplication carrier father had a ratio of 10 7.

Since these results are based on one XX and one XY RevSex duplication carrier and 3 female + 3 male controls, they should be considered as preliminary, especially since chromatin investigations were done in skin fibroblast primary cultures.

The most notable difference between the XX-DSD case and three female controls was a stronger H3K4me3 signal just downstream of TESCO in the RevSex duplication carrier (marked C in Fig. S3).

1q21.1 deletion carriers have been associated more with schizophrenia than duplications and duplication carriers have been associated more with autism spectrum disorders.

This identified the same four individuals as the only PAK7 duplication carriers across different arrays and calling algorithms.

With our series of MECP2 duplication carriers we have extended the spectrum of the associated phenotype in females.

29 The penetrance of duplication carriers is estimated to be around 40%. 28, 30 Accordingly, there are also reports of asymptomatic carriers.

We identified four duplication carriers in cases and five carriers in the control sample, provided further nominal evidence of association (P = 0.047).