title: Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1).
abstract: 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.
authors.affiliation: Instituto de Neurociencias, CUCBA, Departamento de Estudios de Educación, CUCSH, Universidad de Guadalajara, Guadalajara, Mexico.
authors.forename: Esmeralda
authors.initials: E
authors.lastname: Matute
authors.forename: Olga
authors.initials: O
authors.lastname: Inozemtseva
authors.forename: Adriana
authors.initials: A
authors.lastname: Aguilar-Lemarroy
authors.forename: Luis F
authors.initials: LF
authors.lastname: Jave-Suarez
authors.forename: Erika
authors.initials: E
authors.lastname: Della Mina
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Horacio
authors.initials: H
authors.lastname: Rivera
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000523:psychology*; D002882:Chromosomes, Human, Pair 13; D003072:Cognition Disorders / Q000235:genetics* / Q000523:psychology; D056344:Executive Function; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology; D007802:Language; D008297:Male; D009483:Neuropsychological Tests; D013028:Space Perception