摘要
Objective:Using chromosome analysis of a Chinese pedigree to investigate the genetic relationship between chromosome and congenital malformation of the external and middle ear combined with pre-auricular fistula.Methods: Clinical data of all members from 3 family with congenital malformation of the external and middle ear combined with pre-auricular fistula were collected. A pedigrees chart of each family was draw Venous blood samples of all participants were taken for karyotype analysis.Results: A total of 21 members in three generations from three families were screened. Chromosomal abnormalities were detected in 9 people, including 3 patients and 6 carriers. The carriers were fathers and paternal grandparents. Structural abnormalities in chromosomes 1, 2 and 11 were identified.Conclusion:The genetic patterns of congenital malformation of the external and middle ear combined with the pre- auricular fistula in these three families are consistent with autosomal recessive inheritance. Family survey is helpful for further study of this disease.
