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. Author manuscript; available in PMC: 2017 Feb 24.
Published in final edited form as: Am J Med Genet A. 2009 Jul;149A(7):1421–1430. doi: 10.1002/ajmg.a.32899

TABLE II.

Penetrance Calculations

Phenotype Number assessed for each phenotype Number with phenotype (who define critical region) Number hemizygous for the critical region without phenotype Number hemizygous for critical region (both with and without the phenotype) % Non-penetrance % Penetrance
Kidney malformation 72 13 39 52 39/52 = 75 25
Dysmyelination 88 80 0 80 0/80 = 0 100
Growth hormone response failure 99 46 9 89 9/89 = 10 90
Aural atresia 116 81 23 104 23/104 = 22 78