title: Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome.
abstract: BACKGROUND
  Chromosome 22q11 deletion syndrome (22q11DS) causes a developmental disorder during the embryonic stage, usually because of hemizygous deletions. The clinical pictures of patients with 22q11DS vary because of polymorphisms: on average, approximately 93% of affected individuals have a de novo deletion of 22q11, and the rest have inherited the same deletion from a parent. Methods using multiple genetic markers are thus important for the accurate detection of these microdeletions.
  
  
  METHODS
  We studied 12 babies suspected to carry 22q11DS and 18 age-matched healthy controls from unrelated Taiwanese families. We determined genomic variance using microarray-based comparative genomic hybridization (array-CGH), quantitative real-time polymerase chain reaction (qPCR) and multiplex ligation-dependent probe amplification (MLPA).
  
  
  RESULTS
  Changes in genomic copy number were significantly associated with clinical manifestations for the classical criteria of 22q11DS using MPLA and qPCR (p < 0.01). An identical deletion was shown in three affected infants by MLPA. These reduced DNA dosages were also obtained partially using array-CGH and confirmed by qPCR but with some differences in deletion size.
  
  
  CONCLUSIONS
  Both MLPA and qPCR could produce a clearly defined range of deleted genomic DNA, whereas there must be a deleted genome that is not distinguishable using MLPA. These data demonstrate that such multiple genetic approaches are necessary for the unambiguous molecular detection of these types of complicated genomic syndromes.
authors.affiliation: Division of Genetics, Department of Pediatrics, Taipei Medical University Hospital, Taipei 11031, Taiwan. yeungsann@yahoo.com.tw
authors.forename: Chen
authors.initials: C
authors.lastname: Yang
authors.forename: Cheng-Hung
authors.initials: CH
authors.lastname: Huang
authors.forename: Mei-Leng
authors.initials: ML
authors.lastname: Cheong
authors.forename: Kun-Long
authors.initials: KL
authors.lastname: Hung
authors.forename: Lung-Huang
authors.initials: LH
authors.lastname: Lin
authors.forename: Yeong-Seng
authors.initials: YS
authors.lastname: Yu
authors.forename: Chih-Cheng
authors.initials: CC
authors.lastname: Chien
authors.forename: Huei-Chen
authors.initials: HC
authors.lastname: Huang
authors.forename: Chan-Wei
authors.initials: CW
authors.lastname: Chen
authors.forename: Chi-Jung
authors.initials: CJ
authors.lastname: Huang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D017931:DNA Primers; D005260:Female; D005819:Genetic Markers; D015894:Genome, Human; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D022521:Ligase Chain Reaction; D008297:Male; D016133:Polymerase Chain Reaction; D013577:Syndrome; D013624:Taiwan
chemical_list: D017931:DNA Primers; D005819:Genetic Markers