title: Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Bioiatriki S,A,, Laboratory of Genetics, Athens, Greece. emanolakos@bioiatriki.gr.
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Manolakos
authors.forename: Sandro
authors.initials: S
authors.lastname: Orru
authors.forename: Rosita
authors.initials: R
authors.lastname: Neroutsou
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Kefalas
authors.forename: Eirini
authors.initials: E
authors.lastname: Louizou
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papoulidis
authors.forename: Loretta
authors.initials: L
authors.lastname: Thomaidis
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Peitsidis
authors.forename: Sotirios
authors.initials: S
authors.lastname: Sotiriou
authors.forename: George
authors.initials: G
authors.lastname: Kitsos
authors.forename: Panagiota
authors.initials: P
authors.lastname: Tsoplou
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
authors.forename: Aikaterini
authors.initials: A
authors.lastname: Metaxotou