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
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.
Keywords：Chromosome bandingNucleolar organizer regionIn situ hybridizationfluorescencePolymorphismsingle nucleotideNucleic acid hybridization
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 175-177 )