Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N
Division of Medical Genetics, Chiba Children's Hospital, Japan.
Am J Med Genet. 1989 Aug;33(4):505-7. doi: 10.1002/ajmg.1320330419.
We report on a child with Waardenburg syndrome type I and a paracentric inversion of chromosome 2. This 20 month-old boy has dystopia canthorum, sensorineural deafness, heterochromia iridis, partially albinotic ocular fundi, and partial leukodermia. He does not have mental retardation or any skeletal abnormalities. Family history was unremarkable. Cytogenetic studies demonstrated that the patient has a paracentric inversion (2)(q35q37.3); his parents have normal chromosomes. These findings suggest that the locus of the gene for Waardenburg syndrome type I may be at 2q35 or 2q37.3.
我们报告了一名患有Ⅰ型瓦登伯革氏综合征及2号染色体臂间倒位的儿童。这名20个月大的男孩患有内眦异位、感音神经性耳聋、虹膜异色症、部分白化性眼底及部分白斑病。他没有智力发育迟缓或任何骨骼异常。家族史无异常。细胞遗传学研究表明，该患者存在臂间倒位(2)(q35q37.3)；其父母染色体正常。这些发现提示，Ⅰ型瓦登伯革氏综合征的基因位点可能位于2q35或2q37.3。
