title: [Prenatal diagnosis of a case of Pallister-Killian syndrome].
abstract: OBJECTIVE
  To study the clinical and genetic characteristics of Pallister-Killian syndrome and improve the diagnosis for this rare chromosomal disease.
  
  
  METHODS
  Standard G-banding was carried out for the patient and his parents. Single nucleotide polymorphism array (SNP array) for copy number detection was applied to identify chromosome microdeletion or microduplication. Interphase fluorescence in situ hybridization (FISH) and cytogenetic analyses of fibroblast cells were performed based on the Results of array.
  
  
  RESULTS
  The patient's G-banded karyotype has turned out to be 46,XY, whilst his parents were both normal. A duplication of the whole short arm of chromosome 12 was detected by SNP array in the child. The result of interphase FISH performed on interphase chromosomes derived from peripheral blood cells was nucish (RP11-104 b5, a19 RP11-956) × 4 [19/100］, whilst the karyotype of fibroblast cells was 47,XY,+i(12) (p10 [44]/46, XY[56].
  
  
  CONCLUSIONS
  By combining with clinical characteristics, SNP array, skin fibroblasts karyotype analysis and FISH can diagnose Pallister-Killian syndrome effectively.
authors: Center of Hunan Province Prenatal Diagnosis, Hunan Maternal and Chlid Health Hospital, Changsha, Hunan 410008, P. R. China. Email: wanghua213@aliyun.com.
authors: Hui
authors: H
authors: Xi
authors: Hua
authors: H
authors: Wang
authors: Zhenjun
authors: Z
authors: Jia
authors: Yuchun
authors: Y
authors: Zhou
authors: Hong
authors: H
authors: Yu
authors: Jing
authors: J
authors: Liu
authors: Lingqian
authors: L
authors: Wu
mesh_terms: D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis