Objective: To investigate the chromosome abnormalities and clinical features in children from Hangzhou, China.
Methods: The clinical data and the results of chromosome analysis were analyzed in 8158 pediatric patients, in whom chromosome analysis was performed in our unit from January 1980 to October 2008.
Results: Chromosome aberrations were found in 1973 patients, 1608 autosomal, 359 sex chromosome, and 6 of both. A number abnormality is the most common, including 1454 of trisomy, 103 of monosomy, 4 of double trisomy, and 1 of tetrasomy, followed by the sex reversal syndrome and translocation. The most common diseases were Down syndrome, Turner syndrome, Klinefelter syndrome, and trisomy 18. The rate of structural abnormalities was significantly higher in sex chromosome abnormalities than in autosomal disorders (P < 0.001). The median age at diagnosis of patients with trisomy 21 was younger than that of patients with Turner syndrome and other abnormalities.
Conclusion: Our data show that chromosome disorders are common in pediatric patients with mental retardation, abnormal stature, and congenital malformation.