Nuzzo F, Stefanini M, Simoni G, Larizza L, Mottura A, Reali E, Franceschini P
Ann Genet. 1975 Jun;18(2):111-6.
A family with three sibs, including a pair of dizygotic twins, all affected by Down's syndrome with regular trisomy 21, is described. The chromosome counts carried out on prolonged fibroblasts cultures of the mother, revealed the presence of the trisomy 21 in 6 out of 688 scored mitoses. The cytological findings give support to the hypothesis of a chromosome mosaicism in one of the normal parents, as a cause of the recurrence of the trisomy 21.
本文描述了一个有三个同胞的家庭，其中包括一对异卵双胞胎，他们均患有21号染色体三体性唐氏综合征。对母亲的成纤维细胞进行长期培养后进行染色体计数，结果显示在688个计分的有丝分裂中，有6个存在21号染色体三体。细胞学检查结果支持这样一种假说，即正常父母一方存在染色体嵌合体，这是21号染色体三体复发的原因。
