[Molecular cytogenetics study in a case with unbalanced chromosome translocation].
OBJECTIVE
To analyze the chromosome structural aberration in a case of unbalanced chromosome translocation by fluorescence in situ hybridization technique.


METHODS
The 1,18 whole chromosome specific painting probe were used to confirm chromosome abnormality suggested by high resolution G-banding examination.


RESULTS
An unbalanced translocation t(1;18)(q42;q22) was detected in the patient, which caused partial trisomy of 1q42-qter and partial monosomy of 18q22-qter.


CONCLUSIONS
The identified translocation suggested a potential site for congenital heart disease.
Xia
J
J
National Laboratory of Medial Genetics, Hunan Medical University, Changsha, Hunan, 410078 P.R. China. nlmglcy@public.cs.hn.cn
Yin
Z
Z
Dai
H
H
Xue
Z
Z
Chen
Y
Y
Pan
Q
Q
Ning
L
L
D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D014178:Translocation, Genetic