Phenotypic and Historical Factors Cited as Indications for Deletion Screening in 29 Patients Diagnosed With a Chromosome 22q11 Deletion Beyond 6 Months of Age

Phenotypic or Historical Factor*Number of Patients
Speech delay or abnormality14
Developmental delay or mental retardation9
Chronic otitis media8
Chronic respiratory symptoms8
Nasopharyngeal reflux or other feeding problems7
Learning delay or disability5
Abnormal facies3
Submucosal cleft palate3
Laryngeal web3
Parent of a child with chromosome 22q11 deletion2
Hypertonia or hypotonia2
Medially displaced carotid arteries noted during removal of tonsils and adenoids1
Behavior problems1
Gastroesophageal reflux1
Intestinal pseudoobstruction1
  • * Multiple factors were cited for most patients.