Figure 3 | Genetics in Medicine

Figure 3

From: Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

Figure 3

Case 4: Maternal interstitial deletion on Xq23q25. (a) Noninvasive prenatal testing genomic representation profile for chromosome X showing Z-scores and ZZ-scores in the monosomy range. However, a normal value for bin median and the visualization of the Z-cores across subchromosomal bins indicate the presence of an interstitial deletion on Xq23q25. (b) Array CGH on genomic DNA extracted from maternal lymphocytes shows Log ratios of −1 on Xq23q25, thus confirming the presence of a maternal deletion of 8.7 Mb on the long arm of chromosome X.

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