Oorthuys J W, Slater R M, Barrowclough H, de Kleine M J
Clin Genet. 1981 Aug;20(2):130-4. doi: 10.1111/j.1399-0004.1981.tb01817.x.
A patient with several cogenital malformations, principally in the face, cardiovascular system and genitalia, was found to have the karyotype 46,X,der(X),t,X;3)(Xqter leads to p21::3q12 leads to 3qter). A comparison of the clinical and cytogenetical findings with smaller cases in the literature led to the conclusion that a partial trisomy 3q is the most likely cause for the symptoms in this patient.
一名患有多种先天性畸形的患者，主要累及面部、心血管系统和生殖器，其核型为46,X,der(X),t(X;3)(Xqter导致p21::3q12导致3qter)。将该患者的临床和细胞遗传学检查结果与文献中较小的病例进行比较后得出结论，3q部分三体最有可能是该患者症状的病因。
