Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).

Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, Mattina T, Ivy DD, Curfs LM, Mattson SN, Riley EP, Treier M, Grossfeld PD
Neurogenetics. 2009 10 (2): 89-95

PMID: 18855024 · PMCID: PMC3050515 · DOI:10.1007/s10048-008-0157-x

We performed a prospective analysis on 14 11q- patients to determine the relationship between the degree of cognitive impairment and relative deletion size. Seventeen measures of cognitive function were assessed. All nine patients with a deletion of at least 12.1 Mb had severe global cognitive impairment, with full-scale IQ <50, whereas all five patients with smaller deletions,

MeSH Terms (20)

Adolescent Adult Animals Child Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 11 Cognition Disorders Female Homeodomain Proteins Humans Jacobsen Distal 11q Deletion Syndrome Male Mental Disorders Mice Microarray Analysis Nerve Tissue Proteins Neurogranin Prospective Studies Young Adult

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