A case of multiple chromosomal rearrangements with persistence of foetal haemoglobin

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Abstract
The karyotype analysis of a mentally retarded baby with persistence of embryonic and foetal haemoglobin showed three abnormal chromosomes. One was identified as a No. 3 with an extra segment, another as No. 6 or 7, or X, with a deletion and the last one was assigned to pair 15 by autoradiography. The parents of the propositus were both haematologically and chromosomally normal. The possible mechanisms of origin of the multiple chromosomal rearrangements arc discussed. The data are also compared with those reported by other authors in connection with different chromosomal abnormalities. Particular attention is paid to trisomy D, which has been found associated with persistence of foetal haemoglobin. Although the possibility of a nonspecific effect of the observed karyotypic alterations cannot be ruled out, the suggestion is made that one or more of the abnormal chromosomes are carriers of gene(s) controlling the synthesis of e and γ chains.