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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... 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.png Advances in Mental Health and Learning Disabilities Pier Professional

De novo inverted interstitial duplication 8q22.1-q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features

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Publisher
Pier Professional
Copyright
Copyright © 2009 by Pier Professional Limited
ISSN
1753-0180
eISSN
2042-8332
Publisher site
See Article on Publisher Site

Abstract

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 DisabilitiesPier Professional

Published: Jun 1, 2009

Keywords: duplication 8q

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