Germinal mosaicism in Apert syndrome.
Two sisters with Apert acrocephalosyndactyly syndrome born to normal unrelated parents are described. Paternity studies show that the probability of paternity is 99.3%. This report appears to represent the first known example of germinal mosaicism in Apert syndrome.
D000168:Acrocephalosyndactylia / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005854:Germ Cells / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D009030:Mosaicism; D009154:Mutation