AFF3 and skeletal dysplasia: A de novo microdeletion of 500 kb on chromosome 2q11.2 removing only AFF3[50] has been reported in a girl with a severe multisystem disorder consisting of a mesomelic skeletal dysplasia (fibular agenesis, abnormal and triangular tibiae, short neck), urogenital tract malformations, delayed psychomotor development and recurrent apnoea leading to respiratory arrest at the age of 4 months.