Constructing history and pedigree

The history is taken from the person who the disease is affecting - the proband - or his/ her family if young. The history is medically-oriented with emphasis on familial conditions.

Next, the family pedigree is constructed. By convention, males are traditionally placed on the left and all people in the same generation are placed on the same horizontal level. Each successive generation is demarcated with a new Roman numeral. For each member of the pedigree, name and age are included. For each set of parents, the offspring are given in birth order with the eldest on the left.

Miscarriages, neonatal deaths and consanguinity may need to be enquired about in specific contexts.

Pedigree symbols include: symbol meaning

• square, unfilled normal male
• square, filled affected male
• circle, unfilled normal female
• circle, filled affected female
• circle with cross in centre stillbirth
• small circle, filled abortion
• line through square/ circle deceased
• arrow next to square/ circle the proband Symbols are joined by lines to indicate the relationship between individuals.