Neu R L, Dennis N R, Lanman J T, Bannerman R M
Ann Genet. 1979;22(3):151-4.
A newborn infant with a 47,XY,+ der(.),t(1;9) (p36;q22)mat chromosome complement and the clinical features of the 9p trisomy is described. A review of the reproductive histories of five cases with trisomy 9pter yields 9q21 or 22 indicate that the balanced translocation mothers of these infants may have as high as a 23% chance of producing a chromosomally unbalanced offspring due to 3:1 disjunction.
本文描述了一名染色体核型为47,XY,+ der(.),t(1;9) (p36;q22)mat且具有9p三体临床特征的新生儿。对5例9pter三体且染色体核型为9q21或22的病例的生殖史进行回顾发现,这些婴儿的平衡易位型母亲由于3:1分离,生出染色体不平衡后代的几率可能高达23%。