title: [Prenatal diagnosis of two fetuses with de novo small supernumerary markers by single nucleotide polymorphism array based comparative genomic hybridization].
abstract: OBJECTIVE
  To explore the origins of small de novo mosaic supernumerary marker chromosomes (mars) in two fetuses, and to assess the feasibility of single nucleotide polymorphism array-based comparative genomic hybridization (SNP-array  CGH) for prenatal molecular cytogenetic diagnosis.
  
  
  METHODS
  Two fetuses with de novo were identified. SNP-array marker chromosomes was applied to define the location and range of marker chromosomes. The karyotype of fetus I was determined to be 47,XX,+ mar[23]/46,XX[16], and that of fetus II was 47,XX,+ mar. Multiplex ligation-dependent probe amplification (MLPA) was applied to verify the genomic imbalance found in fetus II. The karyotypes of parents were normal in both families.
  
  
  RESULTS
  SNP-array CGH has indicated a 8.3 Mb duplication at 9p21.1-p21.3 in fetus I, and a 10.8 Mb duplication at 15q11.2-q13.3 in fetus II. MLPA has also confirmed a 15q terminal duplication in fetus II.
  
  
  CONCLUSIONS
  Above cases have illustrated that SNP-array CGH is a rapid, powerful and sensitive technique which may be used for identify the origins of marker chromosomes in prenatal diagnosis.
authors.affiliation: Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China.
authors.forename: Xiu-qing
authors.initials: XQ
authors.lastname: Ji
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.forename: Ding-yuan
authors.initials: DY
authors.lastname: Ma
authors.forename: An
authors.initials: A
authors.lastname: Liu
authors.forename: Jing-jing
authors.initials: JJ
authors.lastname: Zhang
authors.forename: Jian
authors.initials: J
authors.lastname: Cheng
authors.forename: Jing
authors.initials: J
authors.lastname: Zhou
authors.forename: Ping
authors.initials: P
authors.lastname: Hu
authors.forename: Zheng-feng
authors.initials: ZF
authors.lastname: Xu
mesh_terms: D000328:Adult; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis