title: [Application of BoBs technique for detecting common chromosome microdeletion and microduplication syndromes].
abstract: OBJECTIVE
  To establish a strategy for screening and diagnosing common microdeletion and microduplication syndromes among children with idiopathic mental retardation and development abnormalities.
  
  
  METHODS
  Potential chromosomal variations among patients with unexplained mental retardation, cardiac anomalies, particular facial features, learning disabilities and other clinical characteristics were detected with bacterial artificial chromosome BACs-on-Beads (BoBs) technique and karyotyping. Positive results were verified with array-based comparative genomic hybridization (Array-CGH).
  
  
  RESULTS
  Fifty eight of the 60 patients had a normal chromosome karyotype. Ten patients with microdeletion and microduplication syndromes were detected by BoBs, which included two positive cases identified through chromosome karyotyping. Two patients were respectively diagnosed as Smith-Magenis syndrome and Prader-Willi/Angelman syndrome by BoBs and the results were confirmed by Array-CGH.
  
  
  CONCLUSIONS
  BoBs is capable of detecting chromosome microdeletion and microduplication with high specificity and throughput, which can compensate the shortcomings of conventional cytogenetic technology and will be widely applied for clinical diagnosis.
authors.affiliation: The Affiliated Hospital of Kunming University of Science and Technology, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Genetic Diagnosis Center, the First People's Hospital of Yunnan Province, Kunming, Yunnan 650032, China. Email: bszhu@aliyun.com.
authors.forename: Bicheng
authors.initials: B
authors.lastname: Yang
authors.forename: Xinhua
authors.initials: X
authors.lastname: Tang
authors.forename: Jie
authors.initials: J
authors.lastname: Su
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
authors.forename: Jinman
authors.initials: J
authors.lastname: Zhang
authors.forename: Yifei
authors.initials: Y
authors.lastname: Yin
authors.forename: Yan
authors.initials: Y
authors.lastname: Feng
authors.forename: Yinhong
authors.initials: Y
authors.lastname: Zhang
authors.forename: Shu
authors.initials: S
authors.lastname: Zhu
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Baosheng
authors.initials: B
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis