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We describe a 13 1/2‐year‐old boy with de novo inverted interstitial duplication 8q22.1‐q21.1 associated with mild phenotypic abnormalities, learning disabilities and autism. Psychometric and psychiatric evaluation was performed. Clinical genetic evaluation was supported by chromosome analysis of blood lymphocytes using GTG‐banding technique and Fluorescent In Situ Hybridization (FISH) with whole chromosome painting 8 probe. Clinical evaluation revealed mild phenotypic abnormalities, moderate learning disabilities and mild autistic disorder. The karyotype of the proband was interpreted as 46, XYqh+pat, 8q+.ish inv dup(8)(q22.1;q21.2)(wcp8+) de novo. Although partial trisomy for other segments of 8q, as well as mosaic trisomy 8, have been described in numerous cases, interstitial duplication of 8q21‐q22 seems extremely rare and the severity of the phenotypic abnormalities ranges from mild to profound.