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22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician

Harvard Medical School, Boston, MA

Jeannie Visootsak, MD

Division of Child Development, Department of Pediatrics, King-Drew Medical Center, UCLA School of Medicine, Los Angeles, CA

Mary C. Phelan, PhD

Genetic Diagnostic Laboratory, T. C. Thompson Children’s Hospital, Chattanooga, TN

John M. Graham, Jr, MD, ScD

Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, SHARE’s Child Disability Center, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA.

Recent advances in genetic testing can help to provide a specific diagnosis to children born with syndromes that result in congenital anomalies and developmental delay. One such emerging condition is the 22q13 deletion syndrome. With the introduction of subtelomeric fluorescence-in-situ hybridization (FISH) analysis, the 22q13 deletion has become recognized as a relatively widespread and underdiagnosed cause of mental retardation. Primary-care physicians play an important role in the care of children with 22q13 deletion syndrome, from suspecting the diagnosis in a developmentally delayed child through the medical, developmental, and behavioral aspects of their care. Furthermore, they serve as a valuable source of support and advocacy for the family and a resource for other care providers. The remainder of this article addresses the current state of knowledge regarding 22q13 deletion syndrome and offers the primary-care physician a framework in which to provide care and information.

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