Research Paper Volume 13, Issue 1 pp 1488—1497

Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease

SNP array results. SNP-array analysis showed the proband (A1, A2) and his mother (B) to be 46,XY.arr[GRCh37]Xq22.1q22.2 (102,429,064-103,168,721)x2 and arr[GRCh37] Xq22.1q22.2(102,429,064-103,168,721)x3, respectively, with a duplicated 740 Kb region (102,429,064-103,168,721) leading to partial disomy of Xq22.1q22.2, which encompassing PLP1 gene, the SNP array results of the boy indicated a diagnosis of PMD. The pregnant mother was proved to be a female carrier of PLP1 duplication, and the male fetus revealed no such duplication (arr[GRCh37] (1-22)x2, (XY)x1) (C, Table 1).

Figure 3. SNP array results. SNP-array analysis showed the proband (A1, A2) and his mother (B) to be 46,XY.arr[GRCh37]Xq22.1q22.2 (102,429,064-103,168,721)x2 and arr[GRCh37] Xq22.1q22.2(102,429,064-103,168,721)x3, respectively, with a duplicated 740 Kb region (102,429,064-103,168,721) leading to partial disomy of Xq22.1q22.2, which encompassing PLP1 gene, the SNP array results of the boy indicated a diagnosis of PMD. The pregnant mother was proved to be a female carrier of PLP1 duplication, and the male fetus revealed no such duplication (arr[GRCh37] (1-22)x2, (XY)x1) (C, Table 1).