Chromosomal karyotype analysis of patients with congenital pseudarthrosis of the tibia / 中华骨科杂志

ABSTRACT

Objective To investigate the variation of the chromosomal karyotype of patients with congenital pseudarthrosis of the tibia(CPT) and its relation with the neurofibromatosis. Methods Ten patients with complete follow up records in 28 cases of CPT treated between 1982 and 1999 were included in this study. There were 7 males and 3 females. The age of the patients at the surgery ranged 4 to 17 years. Seven patients had skin caf?-au-lait spots. Peripheral venous blood (1-2 ml) of 10 patients was cultured in 1640 culture medium with 10%(v/v) fetal calf serum and phytahematoagglutinin(PHA) for 70-72 hours, and then colchicines was added (10 ?g/ml) in culture medium 4 hours before finishing the culture. The specimens were harvested and the chromosomal karyotype was analysed. Results The karyotype of the chromosomes were normal(46XY or 46XX) in all of the speciments, there were no chromosome aberration, chromosome loss and polyploid. Conclusion Neurofibromatosis has no relation with CPT, the genic location of the CPT may have some relation with the neurofibromatosis.