Fig. 5.

Pedigree of three generations showing the inheritance of 1q21 deletion and Xq28 duplication in the family. 1q21 deletion in proband 1 occurred de novo and Xq28 duplication in proband 2 was originally inherited from the maternal grandmother, a carrier who inherited it to his mother, a carrier. The maternal uncle who died at 11 years old from an accident also suffered from a similar phenotype as his nephew. This indicates that the uncle and the nephew might have had the same Xq28 duplication