Siblings with Different Types of Chromosal Aberrations Due to D/E-Translocation of the Mother

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Abstract
A woman of normal appearance had an abortion and gave birth to two mentally defective children with different malformations. A fourth pregnancy was interrupted legally. Features of the first child resemble those of the D trisomy syndrome and the second child has some characteristics in common with cases of E trisomy syndrome. The common symptoms are mental deficiency, short stature, flexion of the fingers and a mild scrotal abnormality. The chromosomes were examined in some members of the family. In the mother, it is presumed that one part of a chromosome of group D has been translocated to a chromosome 17, giving a large chromosome in the group C size range. The other fragment of the broken chromosome resembles the chromosomes of group G. The mother presumably has the normal, although rearranged, genetic material in each cell. The two children reflect the two possible types of partial D trisomy derivable from the mother’s karyotype. Child 1 has the large D/E translocation chromosome with only one chromosome 17. Child 2 has 47 chromosomes since the proximal part of the involved maternal chromosome D has been inherited as an extra chromosome. Since a reciprocal translocation is possibly involved, then child 2 may be trisomic not only for part of a D chromosome but also for a region of chromosome 17. The clinical picture supports this possibility. The karyotypes of the embryo and the mother are identical. The chromosomes are normal in the maternal grandmother and in the father of children 1 and 2. The chromosome number is 46 in a maternal aunt, but two out of 18 mitoses examined have an abnormal karyotype.

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