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THE D 1 trisomy syndrome is usually characterized by a rather stable complex of physical anomalies. 1 The cytogenetic abnormality most frequently associated with it is an extra member of group D (13-15), the large acrocentric elements, yielding a modal number of 47 chromosomes. In some cases, patients with the syndrome have only 46 chromosomes and are carriers for a D/D translocation. However, they still possess most of the genetic information of 47 chromosomes. Reports of such D 1 trisomic translocation carriers have been reviewed by Hecht et al 2 and Pinkerton and Cohen. 3 Although almost all have been sporadic in nature, ie, the translocation chromosome was not inherited from either parent, a few familial cases have been observed. 3 We wish to report a sporadic case of D 1 trisomy in which the proposita possessed a modal number of 45 chromosomes and carried two D/D translocation chormosomes. Report

So far, the only specific chromosome abnormality in haematological disorders is the Ph1-chromosome. Chromosome abnormalities have been described in so-called idiopathic side-roblastic or refractory anaemias1 but a constant cytogenetic abnormality associated with a defined clinical syndrome has not been reported.

Excerpt The only consistent cytogenetic abnormality heretofore described among the human leukemias has been the Ph′ chromosome of chronic granulocytic leukemia. Several previous reports have descri...