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Table 5 Medical findings in 22q11.2DupS patients because of genetic testing ordered without indication of birth defect

From: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

Abnormalities by system Rate Comments
Endocrine 1/12 Hypothyroidism n = 1
Gastrointestinal 2/12 Hepatomegaly n = 1
Splenomegaly n = 1
Hearing loss
 • Conductive
 • Mixed conductive/sensorineural
 • Sensorineural
4/12
 • 2/12
 • 1/12
 • 1/12
Mild n = 2
Mild n = 1
Mild n = 1
Hematologic 3/12 Thrombocytopenia n = 1
Neutropenia n = 2
Immunologic 5/12 Low pneumococcal titers following vaccine n = 2
Common variable immunodeficiency n = 1
Low tetanus antibodies n = 1
Dysgammaglobulinemia n = 1
Palate 2/12 Velopharyngeal insufficiency n = 1
Bifid uvulaa n = 1
Spine 3/12 Large atlantodens interval with platybasia n = 1
Scoliosis n = 1
Incomplete arch of C2 n = 1
  1. Medical problems indicated in the table are the resultant findings from 12 patients with previously undiagnosed 22q11.2DupS after genetic testing was ordered with an indication of developmental delay or autism. To our knowledge, none of the 12 patients had a previously known somatic birth defect, however, it is possible that birth defects were known to the ordering physician but not indicated at the time of testing. Most medical problems noted here would not have been easily detected without a targeted test (e.g., inadequate response to vaccines, mild to moderate hearing loss, hypothyroidism, cervical spine anomalies)
  2. aNot a medical problem in isolation but is an anomaly of the palate that is sometimes associated with palatal dysfunction or unrecognized submucous cleft palate, so is indicated here