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Chromosome 22q1l Deletion Syndrome: An Update and Review for the Primary Pediatrician

Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, Cedars-Sinai Research Institute, UCLA School of Medicine, Los Angeles, CA

John M. Graham, Jr., MD, ScD

Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, Cedars-Sinai Research Institute, UCLA School of Medicine, Los Angeles, CA; Dysmorphology and Clinical Genetics, Cedars-Sinai Medical Center, 444 S. San Vincente Blvd., Suite 1001, Los Angeles, CA 90048

Chromosome 22ql1 deletion syndrome is a relatively newly described syndrome that encompasses the majority of patients previously felt to have velo-cardio-facial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome. The disorder is characterized by a deletion of band 11 on the long arm of chromosome 22 most often recognized by fluorescent in situ hybridization (FISH) techniques. Extensive laboratory investigations are currently ongoing to uncover the specific genes involved and their functions. Phenotypically, individuals present with congenital heart disease, palatal abnormalities, facial dysmorphism, and developmental delay, as well as variable degrees of immunodeficiency, hypocalcemia, and endocrine abnomalities. The primary care physician has an important role in caring for these patients and their families. We review the current state of knowledge regarding chromosome 22q11 deletion syndrome, with an emphasis on the clinical presentation and on prevention and treatment of the known complications associated with this multisystem disorder. Chromosome 22ql1 deletion syndrome can be inherited in an autosomal dominant fashion or result from a de novo deletion or translocation. Hence, this syndrome may have significant reproductive risks to affected individuals and families.

Clinical Pediatrics, Vol. 36, No. 5, 253-266 (1997)
DOI: 10.1177/000992289703600502


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