Fig. 2From: A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case reportPedigree of the described family with TPT-PS. TPT-PS-affected family members are marked in black based on clinical description and family history. The arrow points to the proband with TPT-PS combined with congenital heart defect and microphthalmia with coloboma (V-4). Spontaneous abortion of the proband's mother is shown by a small circle (V-2). Asterisks mark the individuals with performed genetic testBack to article page