Conflicts of interest: None.
Article first published online: 2 DEC 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 220–223, January 2012
How to Cite
Takahashi, I., Takahashi, T., Sawada, K., Shimojima, K. and Yamamoto, T. (2012), Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. Am. J. Med. Genet., 158A: 220–223. doi: 10.1002/ajmg.a.34382
How to Cite this Article: Takahashi I, Takahashi T, Sawada K, Shimojima K, Yamamoto, T. 2012. Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. Am J Med Genet Part A 158A:220–223.
- Issue published online: 19 DEC 2011
- Article first published online: 2 DEC 2011
- Manuscript Accepted: 17 OCT 2011
- Manuscript Received: 14 APR 2011
- Jacobsen syndrome;
- natural history;
- congenital glaucoma;
A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years. A previously reported balanced translocation between chromosome 11 and 22 instead showed an unbalanced translocation by a microarray-based comparative hybridization analysis with the final karyotype of 46,XX,der(11)t(11;22)(q23.3;q11.21),del(22)(q11.21) dn. The breakpoint of chromosome 11 was determined to be at TECTA and not near the apolipoprotein gene cluster site or the fragile site (FRA11B), which are commonly seen in patients with t(11;22) and patients with typical 11q deletions, respectively. Although the phenotypic features of the patient, including psychomotor developmental delay, distinctive features, and mild thrombocytopenia, were consistent with JBS, congenital glaucoma, which is an uncommon finding of JBS, was the most prominent condition during her natural history. © 2011 Wiley Periodicals, Inc.