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22q11 Deletion in children with cleft lip and palate--is routine screening justified?
Muhammad Asim Bashir1, Peter D Hodgkinson, Tara Montgomery
1Cleft Lip & Palate Service, Royal Victoria Infirmary, Queen Victoria Road, Newcastle-upon-Tyne, NE1 4LP, UK. abashirus@yahoo.com
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.
Design:
Retrospective analysis of results of 22q11 FISH testing performed in all such referrals.
Participants:
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.
Conclusion:
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.
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