[Infrequent X chromosome abnormality and X-linked syndromic deafness].
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.


CONCLUSIONS
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.
Wang
Yong-jun
YJ
Department of Digestion, Second Xiangya Hospital, Maoming Central South University, Changsha 410011.
Shi
Xiao-liu
XL
Nie
Jun-wei
JW
Ni
Bin
B
Yin
Zhao-chu
ZC
Dai
He-ping
HP
D000483:Alleles; D041321:Chromosomes, Human, X / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations