[Cytogenetic study in eight cases of Fanconi anemia].
OBJECTIVE
To study the clinical, hematological and cytogenetical characteristics in Fanconi anemia (FA).


METHODS
Culture the peripheral lymphocytes with Mitomycin C (MMC) induction to count the chromosome breakages and to count the sister chromatid exchanges (SCE) in FA.


RESULTS
The clinical and hematological manifestations in FA varied at all. Spontaneous chromosome break and MMC induced break in FA were significantly higher than those in normal. Spontaneous and induced SCE were also higher in FA.


CONCLUSIONS
Owing to genetic heterogeneity in FA, the phenotypes in FA are diversified also. So, chromosome breakage study is a very important method in the diagnosis of FA, and gene complementation analysis may identify which complementation group the patient carries.
Zheng
Y
Y
Department of Pediatrics, Affiliated Hospital of Ningxia Medical College, Yinchuan, Ningxia, 750004 P. R. China P. R. China.
Zheng
C
C
Jiao
H
H
Peng
L
L
Qiang
K
K
Shi
L
L
D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations; D005199:Fanconi Anemia / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male