Skip to main content

Table 2 Recommended clinical evaluations and management for individuals with 15q24 deletion syndrome

From: Chromosome 15q24 microdeletion syndrome

Specialist

Evaluation at time of diagnosis

Screening and surveillance

Primary care physician

Initiate referrals to subspecialist, monitor growth and development

Assess growth parameters and development at each visit

Development clinic

Neurocognitive (developmental) and behavioral evaluation

At time of diagnosis, then annually in childhood

Geneticist

Confirmation of diagnosis and periodic follow-up evaluations

At time of diagnosis, then annually

Audiology

Routine audiology evaluation

At time of diagnosis, then as needed.

Ophthalmology

Evaluate for coloboma, visual acuity, nystagmus, strabismus

At time of diagnosis, then as needed.

Cardiology

Echocardiogram to evaluate for congenital heart defects

At time of diagnosis, then as needed

Allergy and Immunology

Immune work-up for recurrent and persistent infections

As needed

Endocrine

Growth hormone studies for growth retardation

As needed

Gastroenterology/Feeding and Nutrition

Feeding assessment for failure to thrive and growth retardation

As needed

Neurology

Brain MRI for structural malformations and EEG for seizures

As needed

Orthopedics

Spine x-rays and scoliosis evaluation

As needed

Urology

Evaluate for genital abnormalities

As needed