title: 22q11 Deletion in children with cleft lip and palate--is routine screening justified?
abstract: OBJECTIVE
  To ascertain the prevalence of 22q11 deletion in children with a diagnosis of cleft lip and/or palate that had been referred to the Cleft Lip & Palate Service, Newcastle-upon-Tyne.
  
  
  METHODS
  Retrospective analysis of results of 22q11 FISH testing performed in all such referrals.
  
  
  METHODS
  191 children, of whom 13 had a bilateral cleft lip and palate, two had a median cleft, 77 had a cleft palate only, 44 had a unilateral cleft lip, 47 had a unilateral cleft lip and palate and eight had a submucous cleft palate.
  
  
  RESULTS
  nine patients had a positive 22q11 FISH test.
  
  
  CONCLUSIONS
  This represents a higher percentage than has been previously reported. All children with cleft lip and/or palate should routinely have a 22q11 FISH test in view of the implications of a diagnosis of velocardiofacial syndrome.
authors: Cleft Lip & Palate Service, Royal Victoria Infirmary, Queen Victoria Road, Newcastle-upon-Tyne, NE1 4LP, UK. abashirus@yahoo.com
authors: Muhammad Asim
authors: MA
authors: Bashir
authors: Peter D
authors: PD
authors: Hodgkinson
authors: Tara
authors: T
authors: Montgomery
authors: Miranda
authors: M
authors: Splitt
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000175:diagnosis; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D012189:Retrospective Studies