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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

Gerasimos Kolaitis (Department of Child Psychiatry, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece)
Katerina Papanikolaou (Department of Child Psychiatry, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece)
Elena Paliokosta (Department of Child Psychiatry, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece)
John Tsiantis (Department of Child Psychiatry, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece)
Yolanda Gyftodimou (Department of Child Psychiatry, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece)
Catherine Sarri (Department of Child Psychiatry, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece)
Michael Petersen (Department of Child Psychiatry, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece)
Haris Kokotas (Department of Child Psychiatry, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece)

Advances in Mental Health and Learning Disabilities

ISSN: 1753-0180

Article publication date: 16 July 2009

162

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.

Keywords

Citation

Kolaitis, G., Papanikolaou, K., Paliokosta, E., Tsiantis, J., Gyftodimou, Y., Sarri, C., Petersen, M. and Kokotas, H. (2009), "De novo inverted interstitial duplication 8q22.1‐q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features", Advances in Mental Health and Learning Disabilities, Vol. 3 No. 2, pp. 48-52. https://doi.org/10.1108/17530180200900021

Publisher

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Emerald Group Publishing Limited

Copyright © 2009, Emerald Group Publishing Limited

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