22q11 Deletion in children with cleft lip and palate--is routine screening justified?
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.
Bashir
Muhammad Asim
MA
Cleft Lip & Palate Service, Royal Victoria Infirmary, Queen Victoria Road, Newcastle-upon-Tyne, NE1 4LP, UK. abashirus@yahoo.com
Hodgkinson
Peter D
PD
Montgomery
Tara
T
Splitt
Miranda
M
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