title: [Chromosomal microarray analysis of 2000 pediatric cases].
abstract: OBJECTIVE
  To assess the feasibility of chromosomal microarray analysis(CMA) for studying the correlation between birth defects and chromosomal aberrations.
  
  
  METHODS
  A total of 2000 patients with birth defects were recruited for the CMA testing.
  
  
  RESULTS
  Five hundred twenty two patients (26.1%) were found to have chromosomal abnormalities. These included 24 cases with numerical abnormalities, 11 with mosaicisms, and 11 with uniparental disomies. The remaining 476 cases were of well-known microdeletion or microduplication syndromes. The advantage of CMA over conventional karyotyping was demonstrated in many cases.
  
  
  CONCLUSIONS
  As a powerful tool for patients with birth defects, CMA can produce a higher diagnostic yield compared with conventional karyotyping.
authors.affiliation: Guangzhou Kingmed Center for Clinical Laboratory, Guangzhou, Guangdong 510330, China. haimingyuan@sina.cn.
authors.forename: Haiming
authors.initials: H
authors.lastname: Yuan
authors.forename: Junping
authors.initials: J
authors.lastname: Zhu
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Deng
authors.forename: Mengfan
authors.initials: M
authors.lastname: Chen
authors.forename: Xinwei
authors.initials: X
authors.lastname: Li
authors.forename: Qiuli
authors.initials: Q
authors.lastname: Li
authors.forename: Fen
authors.initials: F
authors.lastname: Lyu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics*; D002877:Chromosomes, Human / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis