Journal of International Reproductive Health/Family Planning ›› 2014, Vol. 33 ›› Issue (3): 175-177.

• 论著 • Previous Articles     Next Articles

Correct Errors in the Prenatal Diagnosis Using Combined Genetic Techniques: A Case Report

WEN Juan,LI Hao-xian,LONG Zhi-gao,XIA Yan,XIA Jia-hui,LIANG De-sheng,WU Ling-qian   

  1. State Key Laboratory of Medical Genetics,Central South University,Hunan Jiahui Genetics Hospital,Changsha 410078,China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-05-15 Online:2014-05-15
  • Contact: WU Ling-qian

Abstract: Objective:To verify the maternal balanced reciprocal translocation t(22;22) in a pregnant woman and the partial trisomy 22q in her fetus, which detected by G banding in a local hospital, using the combined genetic techniques. Methods:G-banding, N-banding and FISH were performed in the pregnant woman and her fetus,and high-resolution G-banding and N-banding in parents of the pregnant woman. Results:Inherited from her mother,the pregnant woman had the karyotype of 46,XX,t(11;22)(q25;q13),22ps+. 22ps+ which was obviously a balanced reciprocal translocation with a pair of 22ps+ polymorphisms. A 22ps+ and a normal chromosome 11 in fetus were found to transmit from the pregnant woman,leading to a balanced karyotype in the fetus. Conclusions:The comprehensive analysis by using combined genetic techniques should be performed in fetus and family members to prevent errors in prenatal diagnosis.

Key words: Chromosome banding, Nucleolar organizer region, In situ hybridization, fluorescence, Polymorphism, single nucleotide, Nucleic acid hybridization