Table 5. [Recommended Evaluations Following Initial Diagnosis in Individuals with 22q11.2 Deletion Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
Cardiology	Eval by cardiologist incl chest radiograph, EKG, & echocardiogram	Chest MRI may be required if a vascular ring is suspected.
ENT	Clinical eval of the palate Consider assessment of carotid arteries prior to surgical procedures involving the pharynx. Consider effects on speech prior to adenoidectomy.	To screen for palatal anomalies that may affect feeding & speech development Consider pre- & postoperative sleep studies when performing pharyngeal procedures.
Gastroenterology	Assessment for feeding problems (e.g., gastroesophageal reflux, difficulty w/sucking/swallowing, advancing feeds, addition of textured foods, vomiting) & constipation	Assessment for anatomic differences as needed
Immunology	CBC w/differential	A ↓ absolute lymphocyte count necessitates eval of T- & B-cell subsets & referral to immunologist. Immunologic eval; may incl flow cytometry, immunoglobulins, & T-cell function
Hematology	Eval by hematologist in those w/history of ↑ bruising/bleeding	Consider assessment of platelet volume & function prior to surgical procedures.
Endocrine	Serum ionized calcium Intact parathyroid hormone	To assess for hypoparathyroidism Endocrinology eval if abnormal
TSH & free T4	To evaluate for hypo- & hyperthyroidism
Growth assessment	Referral to endocrinologist for those w/height <²ⁿd centile for growth hormone deficiency eval
Ophthalmology	Ophthalmology eval	At time of diagnosis
Audiology	Audiology eval	At time of diagnosis
Neurology	Neurology eval	If seizures are suspected
Development	Speech & language assessment	By age 1 yr Referral to early intervention
Psychiatry	Eval by psychologist or psychiatrist	In those w/anxiety, mood disorder, behavioral differences, or frank psychosis In teens & adults: incl assessment for at-risk behaviors.
Musculoskeletal	Chest radiograph	To evaluate for thoracic vertebral anomalies
Cervical spine radiographs (6 views: flexion, extension, AP, lateral, open mouth, skull base)	In all persons age >4 yrs (age at which cervical spine becomes ossified) & prior to hyperextension of the neck during surgical procedures &/or athletic pursuits (e.g., tumbling)
Nephrology	Renal ultrasound exam
Other	Consultation w/clinical geneticist &/or genetic counselor

System/Concern

Evaluation

Comment

Cardiology

Eval by cardiologist incl chest radiograph, EKG, & echocardiogram

Chest MRI may be required if a vascular ring is suspected.

ENT

Clinical eval of the palate
Consider assessment of carotid arteries prior to surgical procedures involving the pharynx.
Consider effects on speech prior to adenoidectomy.

To screen for palatal anomalies that may affect feeding & speech development
Consider pre- & postoperative sleep studies when performing pharyngeal procedures.

Gastroenterology

Assessment for feeding problems (e.g., gastroesophageal reflux, difficulty w/sucking/swallowing, advancing feeds, addition of textured foods, vomiting) & constipation

Assessment for anatomic differences as needed

Immunology

CBC w/differential

A ↓ absolute lymphocyte count necessitates eval of T- & B-cell subsets & referral to immunologist.
Immunologic eval; may incl flow cytometry, immunoglobulins, & T-cell function

Hematology

Eval by hematologist in those w/history of ↑ bruising/bleeding

Consider assessment of platelet volume & function prior to surgical procedures.

Endocrine

Serum ionized calcium
Intact parathyroid hormone

To assess for hypoparathyroidism
Endocrinology eval if abnormal

TSH & free T4

To evaluate for hypo- & hyperthyroidism

Growth assessment

Referral to endocrinologist for those w/height <²ⁿd centile for growth hormone deficiency eval

Ophthalmology

Ophthalmology eval

At time of diagnosis

Audiology

Audiology eval

At time of diagnosis

Neurology

Neurology eval

If seizures are suspected

Development

Speech & language assessment

By age 1 yr
Referral to early intervention

Psychiatry

Eval by psychologist or psychiatrist

In those w/anxiety, mood disorder, behavioral differences, or frank psychosis
In teens & adults: incl assessment for at-risk behaviors.

Musculoskeletal

Chest radiograph

To evaluate for thoracic vertebral anomalies

Cervical spine radiographs (6 views: flexion, extension, AP, lateral, open mouth, skull base)

In all persons age >4 yrs (age at which cervical spine becomes ossified) & prior to hyperextension of the neck during surgical procedures &/or athletic pursuits (e.g., tumbling)

Nephrology

Renal ultrasound exam

Other

Consultation w/clinical geneticist &/or genetic counselor

From: 22q11.2 Deletion Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.