Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature

Abstract

Partial monosomy of 6q resulting from an interstitial deletion of bands q16----q22 was found in a 12-year-old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.