title: [A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array].
abstract: OBJECTIVE
  To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype.
  
  
  METHODS
  G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated with fluorescence in situ hybridization (FISH).
  
  
  RESULTS
  G banding analysis suggested that the proband had a karyotype of 46,XX,del(4)(p15), while both of his parents had a normal karyotype. SNP-array has identified a hemizygous deletion of 13.3 Mb on chromosome 4p16.3p15.33, which has been implicated in Wolf-Hirschhorn syndrome. FISH assay has confirmed the de novo origin of the deletion, with the karyotype and clinical phenotype of both parents taken into consideration.
  
  
  CONCLUSIONS
  A case of Wolf-Hirschhorn syndrome has been diagnosed by clinical manifestation and karyotyping analysis. Compared with conventional karyotyping analysis, SNP-array has greater resolution and accuracy, and can provide useful information for genetic counseling.
authors.affiliation: Center for Prenatal Diagnosis, Maternity and Child Health Hospital, Jiaxing, Zhejiang 314000, China. Email: mzy2005@hotmail.com.
authors.forename: Yuxia
authors.initials: Y
authors.lastname: Jin
authors.forename: Xia
authors.initials: X
authors.lastname: Liu
authors.forename: Suping
authors.initials: S
authors.lastname: Li
authors.forename: Chiyan
authors.initials: C
authors.lastname: Zhou
authors.forename: Xiaodan
authors.initials: X
authors.lastname: Liu
authors.forename: Qinhao
authors.initials: Q
authors.lastname: Song
authors.forename: Luming
authors.initials: L
authors.lastname: Wang
authors.forename: Zhengyou
authors.initials: Z
authors.lastname: Miao
mesh_terms: D002871:Chromosome Banding; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*