Fig. 3: MS MLPA results achieved from blood samples of the two BWS patients and their mother. | European Journal of Human Genetics

Fig. 3: MS MLPA results achieved from blood samples of the two BWS patients and their mother.

From: Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

Fig. 3

Whereas testing of the maternal DNA sample revealed normal hybridization patterns (I-2), (mosaic) LOM of the two 11p15.5 ICs could be detected in patients II-3 and of the IC2 in patient II-5 by the assay ME030-C2 (MRC Holland, Amsterdam, The Netherlands). Analyses of the multilocus MS MLPA ME034-A1 showed aberrant methylation at further loci in both patients. (The MS MLPA copy number runs are not shown as they gave normal results). The data were analyzed with the Coffalyser.Net software (MRC Holland, v.140721.1958).

Back to article page