Figure 2.

Pedigree and some clinical features of Family 53. (a) Pedigree: the arrow denotes the male index patient (53B). The vertical line in the symbols (circle, female; square, male) denotes molecular genetic testing for the 3.4-Mb deletion: white halves represent normal alleles and black ones the allele carrying the deletion. The diagonal line through a symbol indicates deceased family members. The year of birth is given in parentheses. (b) Overfolded ear helix (53I). (c) Small earlobe (53). (d) Prominent varicose veins (53). (e) Muscle hypertrophy of the lower leg (53E).