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

Abstract

Chromosome 22q11 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 abnormalities. 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 22q11 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.

22q11.2 Deletion Syndrome: Attitudes towards Disclosing the Risk of Psychiatric Illness

“…Symptomatic hypocalcemia, with seizures, tremors and/or rigidity, in the first 3 months of life is observed in a minority of patients (Thomas and Graham 1997). Previously, treatment would be discontinued by 1 year of age with no subsequent monitoring.…”

Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome

“…22q11 Deletion Syndrome (22qDS), also known as velocardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome, is a genetic syndrome associated with interstitial deletions at chromosome 22q11.2 (Cohen et al 1999;Thomas and Graham Jr. 1997). 22qDS is characterized by a variable phenotype that includes palatal abnormalities, characteristic facial features, congenital heart and other birth defects, and learning disabilities .…”

Neuropsychiatric disorders in the 22q11 deletion syndrome

“…There is a high incidence of cardiac malformation, cleft palate, velopharyngeal dysfunction, immune deficiency, and abnormal calcium metabolism, and many individuals with the syndrome show a characteristic combination of minor physical anomalies. [1][2][3][4] A high incidence of relatively mild cognitive deficits, including mild mental retardation (MMR, i.e., IQ 51-70) has recently been documented in this syndrome. One study comprising 37 individuals, aged between 8 months and 20 years, showed an IQ Ͻ70 in 45% of cases.…”