[Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization].
OBJECTIVE
To delineate the chromosome structural aberration in a case of chromosome translocation by fluorescence in situ hybridization(FISH) technique and precisely identify the breakpoints.


METHODS
The whole chromosome point 5(wcp5) and locus- specific probes derived from yeast artificial chromosomes(YACs) mapping the nearby region of breakpoints were used to delineate the translocation t(5;10) found by high resolution G-banding examination in a case with congenital abnormality.


RESULTS
A balanced translocation was confirmed and the breakpoints were located in the 1.5 Mb area on chromosome 5 and within the approximately 3 Mb interval on chromosome 10.


CONCLUSIONS
The phenotypic abnormality might result from the disruption of disease-associated gene(s) or microrearrangement(s) on the site of breakpoint(s).
Zhu
G
G
Changhai Hospital, the Second Military Medical University, Shanghai 200433 P. R. China. guanshan_zhu@hotmail.com
Bartsch
O
O
Wan
M
M
Gillessen-Kaesbach
G
G
Passarge
E
E
D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D010641:Phenotype; D014178:Translocation, Genetic