Haan E A, Hull Y J, White S, Cockington R, Charlton P, Callen D F
Department of Medical Genetics and Epidemiology, Adelaide Children's Hospital, South Australia.
Am J Med Genet. 1989 Apr;32(4):490-4. doi: 10.1002/ajmg.1320320412.
Here we report on a family with an inherited rearrangement of chromosome 8q, dir ins(8)(q24.11q13.3q21.13). Individuals with the chromosome abnormality, which does not appear to be associated with deletion of chromosome material, have manifestations of both tricho-rhino-phalangeal syndrome (TRPS) and branchio-oto syndrome (BOS). TRPS has been linked previously to deletions involving 8q24.11----q24.13, but none of the described patients with deletions in this part of 8q have had characteristics of the BOS. The presence of a breakpoint in 8q24.11 without apparent chromosome deletion in the family described suggests that TRPS maps to this band of 8q. Further, it is suggested that BOS maps to either 8q13.3 or 8q21.13.
在此，我们报告一个患有8号染色体q臂遗传性重排[dir ins(8)(q24.11q13.3q21.13)]的家族。具有该染色体异常的个体，似乎与染色体物质的缺失无关，同时具有毛发 - 鼻 - 指（趾）综合征（TRPS）和鳃耳综合征（BOS）的表现。TRPS此前已与涉及8q24.11----q24.13的缺失相关联，但在8号染色体这一区域有缺失描述的患者均无BOS的特征。在所描述的家族中，8q24.11存在断点但无明显染色体缺失，这表明TRPS基因定位于8号染色体q臂的这一区带。此外，提示BOS基因定位于8q13.3或8q21.13。
