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

• Published in: Cognitive and behavioral neurology Vol. 25; no. 3; pp. 154 - 158
• Main Authors: MATUTE, Esmeralda, INOZEMTSEVA, Olga, AGUILAR-LEMARROY, Adriana, JAVE-SUAREZ, Luis F, MINA, Erika Della, ZUFFARDI, Orsetta, RIVIERA, Horacio
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 01-09-2012
• Subjects: Adult and adolescent clinical studies; Biological and medical sciences; Chromosome Deletion; Chromosome Disorders - genetics; Chromosome Disorders - psychology; Chromosomes, Human, Pair 13; Cognition Disorders - genetics; Cognition Disorders - psychology; Executive Function; Humans; Intellectual deficiency; Intellectual Disability - genetics; Intellectual Disability - psychology; Language; Male; Medical sciences; Neuropsychological Tests; Organic mental disorders. Neuropsychology; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Space Perception; Human; Male; Developmental disorder; Cognition; Mental retardation; aCGH; Genetic disease; Phenotype; Intellectual deficiency; Deletion; neurodevelopmental profile; Behavior; genetic syndromes; cognitive and behavioral disabilities; chromosome 13q deletion
• ISSN: 1543-3633; 1543-3641
• DOI: 10.1097/WNN.0b013e31826dfd3c

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.