Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 55, Issue 2, Pages 145-150Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2011.12.008
Keywords
Neurogenetics; Developmental delay; Duplication syndrome; 1q
Categories
Funding
- NINDS [K23NS069784]
- John Merck Fund
- Nancy Lurie Marks Family Foundation
- Manton Center for Orphan Disease Research
- Chinese National 973 project on Population and Health [2010CB529601]
- Science and Technology Council of Shanghai [09JC1402400]
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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. (C) 2012 Elsevier Masson SAS. All rights reserved.
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