Fig. 1: Pedigree of families 1 and 2.
From: Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
A Family members clinically diagnosed with NF1 are depicted with blackened symbols, and white denotes healthy individuals. In both families, de novo NF1 mutation has originated in the maternal allele. The arrow indicates the index case in each family. B Schematic representation of the NF1 genomic region. NF1 is depicted as an orange box and adjacent genes as black boxes. Arrows adjacent to gene symbols denote transcriptional orientation. NF1-intragenic (orange) and extragenic (blue) polymorphic microsatellites are indicated under the region.
