Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34382/fullpdf
Reference17 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.JT3);Bernaciak;Am J Med Genet Part 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. The 11q terminal deletion disorder: A prospective study of 110 cases;Grossfeld;Am J Med Genet Part A,2004
4. The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific alu-mediated recombination;Hill;Hum Mol Genet,2000
5. Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: Further details of genotype-phenotype maps;Jamsheer;J Appl Genet,2008
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1. A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker’s Voice;Entropy;2023-06-02
2. A rare case of combined immunodeficiency due to a deletion of 11(q) – Jacobsen syndrome;Pediatric Hematology/Oncology and Immunopathology;2020-10-09
3. Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients;European Journal of Medical Genetics;2015-09
4. 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
5. 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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