A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference18 articles.
1. Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3);Bernaciak;Am J Med Genet A,2008
2. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome);Coldren;Neurogenetics,2009
3. A case of de novo translocation 16;21: Trisomy 16q phenotype and origin of the aberration;Eggermann;Ann Genet,1998
4. Rieger's anomaly and glaucoma associated with partial trisomy 16q. Case report;Ferguson;Arch Ophthalmol,1987
5. The 11q terminal deletion disorder: A prospective study of 110 cases;Grossfeld;Am J Med Genet A,2004
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Partial monosomy of 11q22.2q22.3 including theSDHDgene in individuals with developmental delay;American Journal of Medical Genetics Part A;2015-03-03
2. Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size;American Journal of Medical Genetics Part A;2014-11-25
3. Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up;Molecular Cytogenetics;2014-08-22
4. SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome;American Journal of Medical Genetics Part A;2012-08-07
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