Wheeler P G, Weaver D D, Palmer C G
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
Am J Med Genet. 1995 Feb 13;55(4):462-5. doi: 10.1002/ajmg.1320550414.
A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf-Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf-Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,-4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great-uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39-year-old great-uncle is the oldest reported individual with the Wolf-Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized.
在一个家族的4代人中追踪到，2号个体因4号和8号染色体之间的染色体易位而患有沃尔夫-赫希霍恩综合征。该家族是通过一名患有明显沃尔夫-赫希霍恩综合征的新生儿确诊的，该新生儿有一条不平衡的染色体易位[46,XY,-4,+der(4),t(4;8)(p15.32;p22)]。与该家族的讨论记录显示，一位叔祖父也有类似的表型和严重智力障碍。随后发现该个体与先证者具有相同的不平衡染色体构成。这位39岁的叔祖父是报道中患有沃尔夫-赫希霍恩综合征年龄最大的个体。强调了对患有智力障碍综合征的年长者进行染色体评估的重要性。
