The behavioural phenotype in velo-cardio-facial syndrome.

Abstract

Velo—cardio—facial syndrome (VCFS), the most frequent known interstitial deletion found in humans, occurs with an incidence of approx 1/4000 live births (1). VCFS is associated with chromosomal microdeletions in the ql l band of chromosome 22 in over 90% of those with the disorder (2). The VCFS phenotype is complex, with multiple congenital abnormalities affecting a wide range of tissues and organs, often occurring in different combinations and with widely differing severity. Although in excess of 100 phenotypic features have been described, the most common include characteristic dysmorphology, congenital heart disease, cleft palate, borderline learning disability, and psychiatric disorder (Fig. 1). Variability in phenotypic expression has resulted in the same deletion being linked to several syndromes including DiGeorge syndrome, conotruncal anomaly face syndrome, Cayler syndrome, and Opitz GBBB syndrome, and the term “22q11 deletion syndrome” has been proposed as a replacement term for these other designators.