Seller M J, Pal K, Docherty Z, Nash T G
South East Thames Regional Genetics Centre, Guy's Hospital, London, UK.
Clin Dysmorphol. 1994 Jan;3(1):35-9.
A fetus with multiple abnormalities phenotypically similar to hydrolethalus syndrome, but also with broad thumbs, was found to have a de novo interstitial deletion of the terminal segment of the long arm of chromosome 7 and a small rearrangement within the proximal half of the p arm of the same chromosome. Terminal deletions of chromosome 7q fall into two broad phenotypic groups, neither of which resembles this fetus, but the digital anomalies are attributed to the 7p rearrangement disrupting the Greig syndrome gene.
一名具有多种表型异常、类似于积水性无脑综合征但同时伴有宽拇指的胎儿，被发现存在7号染色体长臂末端节段的新发间质性缺失以及同一染色体p臂近端一半内的小重排。7号染色体长臂末端缺失可分为两个主要表型组，均与该胎儿不符，但手指异常归因于7号染色体短臂重排破坏了格雷格综合征基因。
