Fig. 1

An example pedigree chart with a typical autosomal dominant inheritance pattern. Horizontal rows represent generations, lines represent relationships, lines of descent and sibship. Squares are male, circles female, and diamond shape is unknown gender. A symbol with a ‘P’ inside denotes a pregnancy. Diagonal lines through symbols denote deceased individuals and the text below their age at the time of death (eg. ‘d. 43’ means died when 43 years old). Filled symbols represent individuals with manifest disease, symbols with a vertical line are healthy gene carriers who may develop disease later. The small arrow denotes the current patient (“self”) and the arrow with the ‘P’ is the proband or index patient where the genetic analysis of the family started [11]