Mutchinick O, Ruz L, Jiménez R
Hum Genet. 1978 Nov 24;45(1):89-95. doi: 10.1007/BF00277579.
A family is reported in which the propositus has an extra G-like chromosome with an unusual G-banding pattern. Cytogenetic family studies showed that the mother is a carrier of a balanced reciprocal translocation t(13;22), which does not affect the size and morphology of the chromosomes involved. The propositus has a 47,XY,+der(22),t(13;22)(q22;q11) karyotype and is therefore partially trisomic for the distal third of the long arm of chromosome 13 and for a very small part of chromosome 22. The clinical findings are presented and compared with those of other reported cases of partial trisomies 13 and 22.
本文报道了一个家系,先证者有一条额外的类G染色体,其G显带模式异常。细胞遗传学家系研究表明,母亲是平衡易位t(13;22)的携带者,该易位不影响所涉及染色体的大小和形态。先证者的核型为47,XY,+der(22),t(13;22)(q22;q11),因此13号染色体长臂远侧三分之一和22号染色体很小一部分存在部分三体性。文中呈现了临床发现,并与其他报道的13和22号染色体部分三体病例的发现进行了比较。