Case report
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)
-
* Corresponding author: Emmanouil Manolakos emanolakos@bioiatriki.gr
1 Bioiatriki S.A., Laboratory of Genetics, Athens, Greece
2 Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy
3 Eurogenetica S.A., Thessaloniki, Greece
4 Department of Pediatrics, University of Athens, Aglaia Kyriakou Children's Hospital, Athens, Greece
5 Department of Fetal Medicine, Royal Free Hospital, UK
6 Department of Embryology, University of Thessaly, Larissa, Greece
7 Department of Ophthalmology, University of Ioannina, Ioannina, Greece
8 Department of Genetics, Institute of Child Health, Athens, Greece
Molecular Cytogenetics 2009, 2:26 doi:10.1186/1755-8166-2-26
Published: 9 December 2009Abstract
Background
Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been proven to be involved. Clinical cases may easily escape diagnosis, however pancytopenia or thrombocytopenia may be indicative for JBS.
Results
We report a 7.5 years old boy presenting with speech development delay, hearing impairment and abnormal platelet function. High resolution SNP oligonucleotide microarray analysis revealed a terminal deletion of 11.4 Mb in size, in the area 11q24.1-11qter. This specific deletion encompasses around 170 genes. Other molecular techniques such as fluorescence in situ hybridization and multiplex ligation-dependent probe amplification were used to confirm the array-result.
Discussion
Our results suggest that the identification and detailed analysis of similar patients with abnormal platelet function and otherwise mild clinical features will contribute to identification of more patients with 11q deletion and JBS.