title: Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.
abstract: 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.
authors.affiliation: Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
authors.forename: Ikuko
authors.initials: I
authors.lastname: Takahashi
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Takahashi
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sawada
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D043283:Chromosome Fragile Sites; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D054868:Jacobsen Distal 11q Deletion Syndrome / Q000175:diagnosis* / Q000235:genetics*; D059785:Karyotype; D014178:Translocation, Genetic