由于相互染色体易位t(6;7)(q27;p13)导致的一个大家族中的Greig综合征。
Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13).
作者信息
Krüger G, Götz J, Kvist U, Dunker H, Erfurth F, Pelz L, Zech L
机构信息
Children's University Hospital, Wilhelm Pieck University, Rostock, German Democratic Republic.
出版信息
Am J Med Genet. 1989 Mar;32(3):411-6. doi: 10.1002/ajmg.1320320329.
PMID:2729360
Abstract
We report on cases of Greig syndrome segregating in a large kindred over four generations due to reciprocal translocation t(6;7)(q27;p13) and on a patient from this pedigree with a severe malformation syndrome due to duplication 7(p13----pter). The clinical findings are discussed as possible consequence of a gene mutation due to the break at 7p13.
摘要
我们报告了因相互易位t(6;7)(q27;p13)而在一个四代大家庭中分离的Greig综合征病例，以及该谱系中一名因7号染色体(p13→pter)重复而患有严重畸形综合征的患者。讨论了这些临床发现可能是由于7p13处断裂导致基因突变的结果。
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