A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion.

Autor:	Kolaitis G; Department of Child and Adolescent Psychiatry/Psychology, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Bouwkamp CG; Department of Psychiatry and Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Papakonstantinou A; Department of Child Psychiatry, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Otheiti I; Department of Child Psychiatry, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Belivanaki M; Department of Child Psychiatry, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Haritaki S; Department of Child Psychiatry, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Korpa T; Department of Child Psychiatry, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Albani Z; Department of Child Psychiatry, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Terzioglou E; Department of Child Psychiatry, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Apostola P; Department of Child Psychiatry, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Skamnaki A; Department of Child Psychiatry, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Xaidara A; 1st Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Kosma K; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, 11527 Greece., Kitsiou-Tzeli S; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, 11527 Greece., Tzetis M; Department of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, 11527 Greece.
Jazyk:	angličtina
Zdroj:	Child and adolescent psychiatry and mental health [Child Adolesc Psychiatry Ment Health] 2016 Sep 15; Vol. 10, pp. 33. Date of Electronic Publication: 2016 Sep 15 (Print Publication: 2016).
DOI:	10.1186/s13034-016-0121-8
Abstrakt:	Background: This is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders. Case Presentation: We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed. The cytogenetic analysis revealed 47,XYY syndrome, while CGH analysis revealed an additional duplication and two deletions. The 7q11.23 duplication is associated with speech and language delay and behavioral symptoms, a 20q13.33 deletion is associated with autism and early onset schizophrenia and the 11p15.5 microdeletion is associated with developmental delay, autism, and epilepsy. The patient underwent a psychiatric history, physical examination, laboratory testing, and a detailed cognitive, psychiatric, and occupational therapy evaluation which are reported here in detail. Conclusions: In the case of psychiatric patients presenting with complex genetic aberrations and additional psychosocial problems, traditional psychiatric and psychological approaches can lead to significantly improved functioning. Genetic diagnostic testing can be highly informative in the diagnostic process and may be applied to patients in psychiatry in case of complex clinical presentations.
Databáze:	MEDLINE
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