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Micro-duplications of 1q32.1 associated with neurodevelopmental delay
Ist Teil von
European journal of medical genetics, 2012-02, Vol.55 (2), p.145-150
Ort / Verlag
Netherlands: Elsevier Masson SAS
Erscheinungsjahr
2012
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
Abstract Distal partial trisomies involving the region 1q32 have been associated with dysmorphic features and developmental delay [1–11] . To further define the critical region for developmental delay and to investigate the genotype–phenotype association of 1q trisomy syndrome, we report two patients with much smaller (3 Mb and 3.5 Mb in size) trisomic regions on 1q32.1. The two micro-duplications largely overlap and both patients exhibited cognitive and motor delays. Case 1 is a 5-year-old boy with global developmental delay, behavioral problems, pervasive developmental disorder not otherwise specified (PDD-NOS), staring spells, headaches, and paresthesias. Case 2 is a 14-year-old girl with seizures, cognitive and motor difficulties, and minor dysmorphic features. These two cases suggest that 1q32.1 region on distal arm of 1q and genes involved are critical to cognitive and motor development in a gene dosage sensitive manner and that other neurological features are variable within this syndrome.