De novo inverted interstitial duplication 8q22.1-q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features
De novo inverted interstitial duplication 8q22.1-q21.1 in a boy with moderate learning...
Kolaitis, Gerasimos ; Papanikolaou, Katerina ; Paliokosta, Elena ; Tsiantis, John ; Gyftodimou, Yolanda ; Sarri, Catherine ; Petersen, Michael B; Kokotas, Haris B
2009-06-01 00:00:00
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.
http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.pngAdvances in Mental Health and Learning DisabilitiesPier Professionalhttp://www.deepdyve.com/lp/pier-professional/de-novo-inverted-interstitial-duplication-8q22-1-q21-1-in-a-boy-with-JXigvmT7gk
De novo inverted interstitial duplication 8q22.1-q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features
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.
Journal
Advances in Mental Health and Learning Disabilities
– Pier Professional
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