Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 07-11-2012
Symbol DEL11QD
Location 11q24.3
HGNC id 6194
Name chromosome 11q distal deletion syndrome
Other name(s)
  • Jacobsen syndrome
  • partial 11q monosomy syndrome
  • Corresponding gene FLI1 , JAM3 , ETS1
    Other symbol(s) JBS
    Main clinical features
  • developmental delay/cognitive impairment
  • trigonocephaly, broad nasal bridge, hypertelorism, low set dysmorphic ears, carp shaped mouth, ptosis
  • congenital heart diseases (HLH), urogenital anomalies, thrombocytopenia Trousseau type and pancytopenia, short stature, structural CNS malformations, undescended testes, recurrent infections
  • eye anomalies and hearing loss in some patients
  • Genetic determination chromosomal
    Prevalence <1/100 000, male to female ratio of 1:2
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Gene mutationChromosome rearrangementEffectComments
      deletion   usually terminal, ranging from ~7Mb to 20Mb, the larger deletions have a breakpoint in q23.3 near the fragile site FRA11B
      translocation   unbalanced, monosomy 11q associated with variable trisomy for another chromosome
    Genotype/Phenotype correlations a) deletion of at least 3 of the 4 platelet function critical genes (ETS-1, FLI-1 and NFRKB and JAM3) is necessary for thrombocytopenia; b) one of the critical regions for heart abnormalities (conotruncal heart defects) may lie within 129.03 - 130.6 Mb; c) deletions of KCNJ1 and ADAMTS15 may contribute to the renal anomalies in Jacobsen Syndrome; d) the critical region for MRI abnormalities involves a region from 124.6 - 129.03 Mb, PMID: 19000322..
  • trigonocephaly is not present in patients with a breakpoint distal to q24.2 ;
  • subtelomeric 11q deletions can be associated with mild to moderate learning difficulties and specific facial features, namely hypertelorism, down-slanting palpebral fissures and ptosis