Application of aCGH technology in diagnosing small supernumerary marker chromosome / 国际检验医学杂志

ABSTRACT

Objective To explore the clinical application of array comparative genomic hybridization (aCGH) and karyotype a-nalysis in the prenatal evaluation of fetal with small supernumerary marker chromosome (sSMC) .Methods One case was indenti-fied with de novo small supernumerary marker chromosome .G-banding analysis indicated that the fetus had a karyotype of 47 , XY ,+Mar .aCGH was used to define the precise location and size of de novo chromosome .Results aCGH revealed that there was 2 .03 Mb duplication from 15q11 .1-q11 .2 in the fetus .aCGH revealed the presence of small supernumerary marker chromosome . Conclusion The technologies of aCGH can be used for identifying the origin of small supernumerary marker chromosome and defi-ning the loci of the chromosome .Combined with the karyotype analysis ,it can be applied to genetics analysis and prenatal diagnosis .