title: Interstitial deletion on chromosome 5q33.3q35.1 in a 6-year-old girl -- neuropsychological findings and follow-up in an extremely rare chromosomal aberration.
abstract: Interstitial deletion on chromosome 5q33.3q35.1 is an extremely rare chromosomal aberration for which a characteristic syndrome could not yet be delineated. In most patients with 5q deletions severe mental retardation is described. Recently, Spranger et al. (2000) described the case of a 4-year-old girl with a de novo deletion on 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures. The patient was admitted for outpatient neuropsychological assessment when she was 6.2 years old. Neurocognitive tests revealed an overall developmental delay of about 32 months and an intelligence score in the range of mild mental retardation. Her cognitive phenotype was characterized by a considerable visual-spatial deficit in the form of disorganized drawings or block designs indicating a profound lack of cohesion and overall global organization (decay of gestalt). The patient's behavioral phenotype was dominated by a distinct disinhibition syndrome demonstrating severe hyperactivity, utilization behavior, and aggressive behavior.
authors.affiliation: Department of Clinical Child Neuropsychology, University of Bremen, Bremen, Germany. heubrock@uni-bremen.de
authors.forename: Dietmar
authors.initials: D
authors.lastname: Heubrock
authors.forename: Stephanie
authors.initials: S
authors.lastname: Spranger
authors.forename: Bergit
authors.initials: B
authors.lastname: Lex
authors.forename: Anja C
authors.initials: AC
authors.lastname: Lepach
authors.forename: Franz
authors.initials: F
authors.lastname: Petermann
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics