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Cognitive and Behavioral Phenotype of a Young Man With a Chromosome 13 Deletion del(13)(q21.32q31.1)

Matute, Esmeralda PhD*; Inozemtseva, Olga PhD*; Aguilar-Lemarroy, Adriana PhD; Jave-Suarez, Luis F. PhD; Mina, Erika Della PhD; Zuffardi, Orsetta PhD; Rivera, Horacio MD§

Cognitive and Behavioral Neurology: September 2012 - Volume 25 - Issue 3 - p 154–158
doi: 10.1097/WNN.0b013e31826dfd3c
Case Reports

Cognitive, emotional, and behavioral characterizations have been reported for patients with a few chromosomal imbalances, but not for patients with a 13q deletion. We report the neuropsychological profile and specific linguistic, visual, spatial, constructional, and behavioral disabilities of a young man with a de novo chromosome 13 deletion (13)(q21.32)(q31.1). Karyotyping at 550 G-band resolution showed that the patient’s parents did not share the deletion. According to array-comparative genomic hybridization, the deletion spanned about 14 Mb and included 27 genes. A fluorescence in situ hybridization assay revealed an intact 13q telomere on the partially deleted chromosome. The patient had multiple morphologic and ophthalmologic anomalies. A brain magnetic resonance imaging study did not show gross brain defects. Neuropsychological testing showed an acceptable use of everyday language, but mild mental retardation, executive dysfunction, and very poor performance on visual, visuospatial, and constructional tasks. Establishing a neuropsychological profile for a patient with a specific genetic defect can help clinicians, parents, and teachers work to meet the patient’s medical, academic, and behavioral needs.

*Instituto de Neurociencias, CUCBA, Departamento de Estudios de Educación, CUCSH, Universidad de Guadalajara, Guadalajara, Mexico

División de Inmunología, Centro de Investigación Biomédica de Occidente—IMSS, Guadalajara, Mexico

Department of Molecular Medicine, University of Pavia, Pavia, Italy

§División de Genética, Centro de Investigación Biomédica de Occidente—IMSS and Doctorado en Genética Humana, CUCS—Universidad de Guadalajara, Guadalajara, Mexico

The authors declare no conflicts of interest.

Reprints: Horacio Rivera, MD, Centro de Investigación Biomédica de Occidente—IMSS, Sierra Mojada 800, Col. Independencia, Guadalajara, CP 44360, Mexico (e-mail: hrivera@cencar.udg.mx).

Received October 4, 2011

Accepted April 19, 2012

© 2012 Lippincott Williams & Wilkins, Inc.