Objective: To make clear the relationship between the X chromosome abnormality and sydromic deafness through genetic analysis of a pedigree with X-linked syndromic deafness.
Methods: The chromosome number and structure of the family members were analyzed by the standard and high resolution banding with Giemsa, and fluorescent in situ hybridization. The allelic number of the DNA segment in X chromosome was studied with genetic markers.
Results: The 2 probands, their mothers and grandmother with normal phenotype all had X(p22-pter) duplication. The whole X chromosome of both the proband III-3 and his mother could be stained with X chromosome staining probe. The proband III-3 had 2 copies of DXS7108.
Conclusion: The abnormal X chromosome occurring in this pedigree of X-linked syndromic deafness derives from partial Xp duplication, which will guide further research to identify the breakpoint of this abnormal chromosome.