Velopharyngeal incompetence and chromosome 22q11 deletion.
Lancet
; 357(9258): 774, 2001 Mar 10.
Article
em En
| MEDLINE
| ID: mdl-11253977
ABSTRACT
Chromosome 22q11 deletion gives rise to various phenotypes, including cardiac malformations, velopharyngeal abnormalities, absent thymus, and neurological defects. We assessed, in a prospective study, chromosome 22q11 deletion in 50 of 144 patients with velopharyngeal incompetence in the absence of overt clefting. 18 (12.5% of the whole cohort and 36% of patients tested for the deletion) had the 22q11 deletion. This frequency differs from an estimated population prevalence of 0.025% and suggests a need for screening for the 22q11 deletion in these patients.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 22
/
Insuficiência Velofaríngea
/
Deleção Cromossômica
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article