Di Guglielmo syndrome in a t(DgDg) heterozygote.
نویسندگان
چکیده
The centric fusion translocation involving the long arm of two D group chromosomes, t(DqDq), is the commonest structural abnormality observed in human populations (Court Brown, 1967; Lubs and Ruddle, 1968; Sergovich et al, 1969; Walzer, Breau, and Gerald, 1969). Several of these translocations are familial and some are sporadic; the ascertainment of such translocations has often been as a result of the occurrence of trisomy 13 syndrome or by the study in families of patients with other aneuploidies and also by the surveys of normal populations (review in Palmer, Conneally, and Christian, 1969). Occasionally this structural abnormality occurred in subjects selected for chromosome examination because of mental retardation, congenital malformations (Walker and Harris, 1962; Biihler and Stalder, 1963; de Grouchy et al, 1963; Jagiello, 1963; Dekaban, 1966; Bowen, Lee, and Harvey, 1968; Neu and Gardner, 1969), or increased frequency of spontaneous abortions (Court Brown, 1967; Wilson, 1969). Even if it is well known that chromosome anomalies can predispose the cell to malignant transformation (review in Koller, 1967, and in Baserga, 1970), the occurrence of leukaemia in patients with t(DqDq) hitherto has been reported only twice (Engel et al, 1965; Krompotic, 1969). In the present paper we describe haematological and cytogenetic findings in a case of Di Guglielmo syndrome occurring in a t(DqDq) heterozygote.
منابع مشابه
Uiromosomal Studies in Erythroleukemia and Chronic
T HE DI GUGLIELMO SYNDROME1 is a condition characterized principally by neoplastic proliferation of the cells of the erythroid series, which is frequently, if not invariably, associated with leukemic proliferation of the cells of the granulocytic series. It is usually of acute variety but-rarely-chronic forms are encountered. The term “acute erythremic myelosis” or “Di Guglielmo disease”2 is fr...
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عنوان ژورنال:
- Journal of medical genetics
دوره 8 2 شماره
صفحات -
تاریخ انتشار 1971