Reiss J A, Brenes P M, Chamberlin J, Magenis R E, Lovrien E W
Hum Genet. 1979 Mar 12;47(2):135-40. doi: 10.1007/BF00273195.
A boy with severe retardation of growth and development, minor dysmorphic features, severe congenital heart disease, and a 46,XY,8p-karyotype is described. The clinical findings of this boy are compared with those of others reported monosomic for a portion of the short arm of chromosome 8. The red cell glutathione reductase (GSR) level is normal in our patient.
本文描述了一名生长发育严重迟缓、有轻微畸形特征、患有严重先天性心脏病且核型为46,XY,8p-的男孩。将该男孩的临床发现与其他报道的8号染色体短臂部分单体患者的临床发现进行了比较。我们的患者红细胞谷胱甘肽还原酶（GSR）水平正常。
