de la Chapelle A, Lahtinen R
Department of Medical Genetics, University of Helsinki, Finland.
Eur J Haematol. 1987 Nov;39(5):404-11. doi: 10.1111/j.1600-0609.1987.tb01447.x.
We studied the chromosomes in the bone marrow of 4 patients who had both diabetes insipidus (DI) and acute non-lymphocytic leukaemia. Clinical findings suggested that, in each case, myelodysplastic syndrome had preceded the onset of acute leukaemia. Two other such patients described in the literature had had a banded karyotype study of bone marrow cells. All 6 patients had deletions of chromosome 7. 3 had monosomy 7 as the sole cytogenetic abnormality, 2 had monosomy 7 associated with other clonal abnormalities and 1 had del(7)(q22) in association with other abnormalities. These data suggest that monosomy 7 or perhaps monosomy for 7q22-qter predisposes to DI. The mechanism by which the proposed predisposition is produced remains to be clarified.
我们研究了4例患有尿崩症（DI）和急性非淋巴细胞白血病患者的骨髓染色体。临床研究结果表明，在每例患者中，骨髓增生异常综合征均先于急性白血病发病。文献中描述的另外2例此类患者对骨髓细胞进行了染色体显带核型研究。所有6例患者均存在7号染色体缺失。3例患者以7号染色体单体作为唯一的细胞遗传学异常，2例患者的7号染色体单体与其他克隆性异常相关，1例患者的del(7)(q22)与其他异常相关。这些数据表明，7号染色体单体或7q22-qter区域的单体可能易患尿崩症。导致这种易患性的机制仍有待阐明。
