title: [Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array].
abstract: OBJECTIVE
  To explore the origin of a supernumerary small marker chromosome (sSMC) in a fetus, and to assess the feasibility of single nucleotide polymorphism array (SNP-array) for prenatal diagnosis.
  
  
  METHODS
  The fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH).
  
  
  RESULTS
  The karyotype of the fetus was determined as 47,XX,+mar, which was verified by SNP microarray chip analysis as a 34.6 Mb duplication in 12p13.33p11.1. FISH analysis confirmed that the sSMC has originated from chromosome 12p.
  
  
  CONCLUSIONS
  The karyotype of the fetus was determined as 47,XX,+i(12)(p10). Tetrasomy 12p is reported to be a marker for Pallister-Killian syndrome, which may result in multi-system anomalies. SNP-array analysis can simultaneously detect microdeletions and microduplications, which may be used for prenatal diagnosis of suspected cases.
authors: Center of Prenatal Diagnosis of Jiaxing Maternal and Child Health Hospital, Jiaxing, Zhejiang 314000, China. Email: mzy2005@hotmail.com.
authors: Suping
authors: S
authors: Li
authors: Huaxiang
authors: H
authors: Shen
authors: Yuxia
authors: Y
authors: Jin
authors: Xiaodan
authors: X
authors: Liu
authors: Qinhao
authors: Q
authors: Song
authors: Zhengyou
authors: Z
authors: Miao
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000378:metabolism; D055106:Genome-Wide Association Study / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods*