Butomo I V, Prozorova M V, Khitrikova L E
Tsitol Genet. 1984 May-Jun;18(3):223-8.
Two balanced translocations (1; 16) (q22; q11) and t(21; 22) (q21; p11), partial inversion of chromosome 9 and variant 16gh + were detected in the family of the child with Down's syndrome. The proband clinical picture was due to trisomy of the distal region of the long arm of chromosome 21 (q21----q22). Proband's karyotype was 46, XY, --22, +der(22), t(21; 22)mat, inv(9). Carriers of variant 16gh+ had a normal phenotype and a normal reproductive function. The relation is discussed of the balanced translocations and C-heterochromatin to the development of following chromosomal aberrations. A probability prediction of the progeny is given. It is advisable to make a prenatal diagnosis of the fetal chromosome set for each subsequent pregnancy.
在一名唐氏综合征患儿的家族中检测到两个平衡易位（1；16）（q22；q11）和t（21；22）（q21；p11）、9号染色体部分倒位以及16gh + 变异。先证者的临床表现是由于21号染色体长臂远端区域（q21----q22）三体所致。先证者的核型为46，XY，--22，+der（22），t（21；22）mat，inv（9）。16gh + 变异携带者具有正常的表型和生殖功能。讨论了平衡易位和C-异染色质与后续染色体畸变发生的关系。给出了子代的概率预测。建议对每一次后续妊娠进行胎儿染色体组的产前诊断。
