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. 2001 Dec 21;70(2):358–368. doi: 10.1086/338627

Table 6.

Probabilities That an Unaffected Child Who Has Been Tested after Birth and Has Been Found to Carry a Homozygous Absence of SMN1 Will Develop Type I, II, or III SMA, on the Basis of Number of SMN2 Copies

Probability ofDeveloping SMA
Probability Type andNo. of SMN2 Copies Type I Type II Type III
Prior probabilities .51 .32 .17
Conditional probabilities (OR):a
 One copy 1.00 <.001 <.001
 Two copies 1.00 .044 .0145
 Three copies 1.00 18.4 4.19
 Four copies 1.00 14.7 156.7
Joint probabilities:
 One copy .51 <.00032 <.00017
 Two copies .51 .0141 .000255
 Three copies .51 5.89 .712
 Four copies .51 4.70 26.6
Posterior probabilities (%):
 One copy >99.9 <.1 <.1
 Two copies 97.26 2.7 .04
 Three copies 7.2 82.8 10.0
 Four copies 1.6 14.8 83.6
a

The OR for one copy was used as a reference and was fixed to unity.