一名身材矮小的XYY男孩以及一个患有克兰费尔特综合征（XXY）且家族存在9号染色体倒位的病例。
An XYY boy with short stature and a case of Klinefelter's syndrome (XXY) in a family with inversion 9.
作者信息
Faed M J, Lamont M, Morton H G, Robertson J, Smail P
出版信息
Clin Genet. 1978 Oct;14(4):241-5. doi: 10.1111/j.1399-0004.1978.tb02138.x.
Abstract
A patient with Klinefelter's syndrome and a boy with XYY sex chromosomes were both found to have a pericentric inversion of chromosome 9. An unusual feature of the XYY patient was that he presented because of short stature and disturbed behaviour. A family study showed that the patients were related and that there was an excess of males in the pedigree. Another member of the family was found to have some XYY cells in the blood.
摘要
一名患有克兰费尔特综合征的患者和一名具有XYY性染色体的男孩均被发现存在9号染色体的臂间倒位。该XYY患者的一个不同寻常之处在于，他因身材矮小和行为障碍前来就诊。一项家族研究表明，这些患者具有亲缘关系，且家系中男性过多。该家族的另一名成员被发现血液中存在一些XYY细胞。
Zotero 插件