Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
Am J Med Genet A. 2012 Jan;158A(1):220-3. doi: 10.1002/ajmg.a.34382. Epub 2011 Dec 2.
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.
一位 40 岁的女性患者表现为精神运动发育迟缓、先天性青光眼、特征性面部特征和短颈，被诊断为雅各布森综合征（JBS）。先前报道的 11 号和 22 号染色体之间的平衡易位，通过微阵列比较杂交分析显示为不平衡易位，最终核型为 46,XX,der(11)t(11;22)(q23.3;q11.21),del(22)(q11.21) dn。11 号染色体的断点确定为 TECTA，而不是常见于 t(11;22)患者和具有典型 11q 缺失的患者的载脂蛋白基因簇位点或脆性位点（FRA11B）附近。尽管患者的表型特征，包括精神运动发育迟缓、特征性特征和轻度血小板减少症，与 JBS 一致，但先天性青光眼是 JBS 的一种罕见表现，是她自然病史中最突出的病症。
