How to cite this article: Bernaciak J, Szczałuba K, Derwińska K, Wiśniowiecka-Kowalnik B, Bocian E, Sąsiadek MM, Makowska I, Stankiewicz P, Śmigiel R. 2008. Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3). Am J Med Genet Part A 146A:2449–2454.
Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)†
Article first published online: 15 SEP 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 19, pages 2449–2454, 1 October 2008
How to Cite
Bernaciak, J., Szczałuba, K., Derwińska, K., Wiśniowiecka-Kowalnik, B., Bocian, E., Sąsiadek, M. M., Makowska, I., Stankiewicz, P. and Śmigiel, R. (2008), Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3). Am. J. Med. Genet., 146A: 2449–2454. doi: 10.1002/ajmg.a.32490
- Issue published online: 22 SEP 2008
- Article first published online: 15 SEP 2008
- Manuscript Accepted: 18 JUN 2008
- Manuscript Received: 16 JAN 2008
- Polish Ministry of Scientific Research and Information Technology. Grant Number: 2 PO5A 191 29
- intrafamilial phenotypic heterogeneity;
- Jacobsen syndrome (JBS);
- thrombocytopenia (Paris-Trousseau)
Clinical manifestations of Jacobsen syndrome (JBS) depend on the size of the 11qter deletion, which usually varies between ∼7 and 20 Mb. Typical JBS features include developmental delay/mental retardation, short stature, congenital heart defects, thrombocytopenia, and characteristic dysmorphic facial features. We report on a family in which a 4-year-old girl as well as her mother and maternal uncle present with subtle features of JBS. Notably, neither thrombocytopenia nor congenital anomalies were detected in this family. Cytogenetic analyses revealed normal karyotypes. Using fluorescence in situ hybridization (FISH) and whole-genome oligonucleotide array CGH analyses, we identified an ∼5 Mb deletion of the terminal part of chromosome 11q in all the three affected family members. The deletion breakpoint was mapped between 129,511,419 and 129,519,794 bp. This is the smallest deletion reported in a JBS patient. Interestingly, the FLI1 (friend leukemia virus integration 1) hematopoiesis factor gene located ∼6.5 Mb from 11qter and usually deleted in patients with JBS, is intact. Our data support previous hypotheses that FLI1 haploinsufficiency is responsible for thrombocytopenia in patients with JBS. © 2008 Wiley-Liss, Inc.