Tanrıverdi, Nilgün Çukurova Üniversitesi - Tıp Fak, Türkiye , Pazarbaşı, Ayfer Çukurova Üniversitesi - Tıp Fak, Türkiye , Karahan, Dilara Çukurova Üniversitesi - Tıp Fakültesi, Turkey , Avcı, Ayşe Çukurova Üniversitesi - Tıp Fak, Türkiye , Tahiroğlu, Ayşegül Yolga Çukurova Üniversitesi - Tıp Fak, Türkiye , Tunç, Erdal Çukurova Üniversitesi - Tıp Fak, Türkiye , Demirhan, Osman Çukurova Üniversitesi - Tıp Fak, Türkiye

The Effect of a Pericentric Inversion (10) (p11.1;q22.1) on Aggressive Behavior and Hyperactivity

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Aggressive behavior and hyperactivity are neurodevelopmental diseases with unknown pathogenesis. Pericentric inv(10)(p11.2;q21.2) mutation is frequently encountered in cytogenetic laboratories. This mutation is accepted as a polymorphic variant and is phenotypically silent, but in some cases it has been associated with neurodevelopmental diseases like autism. After blood culturing, standard chromosome obtaining procedure was applied to patients. In this study, clinical and cytogenetical findings of a boy with developmental delay, mental and motor retardation, attention deficit and hyperactivity have been reported. As a result of chromosome analysis, on chromosome 10, a large pericentric inversion between p11.1 and q22.q bands has been found. Karyotype analysis was also performed to mother, father and siblings of the patient and they have been found to have normal karyotype. It is plausible to consider a relation between inv(10) and some behavioral problems. Additionally, molecular studies targeting 10p-q critical region will be more informative for the true identification of this disease.

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Pericentric inversion , Chromosome 10p , q , Aggressive behavior , Hyperactivity , Mental retardation

Cukurova Medical Journal

113