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

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

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 youn...

Full description

Saved in:
Bibliographic Details
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
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1543-3633
1543-3641
DOI:10.1097/WNN.0b013e31826dfd3c