Veall R M, Rundle A T, Chitham R C, Saldana-Garcia P
J Ment Defic Res. 1975 Sep-Dec;19(3-4):225-43. doi: 10.1111/j.1365-2788.1975.tb01275.x.
A small thirty-eight-year-old profoundly retarded woman is decribed who has a ring chromosome identified by banding techniques. Details are given of her behaviour, anthropometry, dermatoglyphics, karyotype and biochemistry with extensive investigations of her blood proteins and enzymes. Other described cases of ring 21 and 22 are reviewed. There is so much variability among the ring 22 chromosomes that it is not considered justifiable to speak of a ring 22 syndrome.
本文描述了一名38岁的重度智障女性,通过显带技术鉴定出她有一条环状染色体。文中详细介绍了她的行为、人体测量学、皮纹学、核型以及生物化学情况,并对其血液蛋白质和酶进行了广泛研究。同时对其他已报道的21号和22号环状染色体病例进行了综述。22号环状染色体之间存在很大的变异性,因此认为将其称为22号环状染色体综合征是不合理的。