Diculescu G L, Vulpe C
Victor Babeş Institute, Bucharest.
Rom J Morphol Embryol. 1991 Jul-Dec;37(3-4):123-30.
Cytogenetic and dermatoglyphic studies were carried out in Down's Syndrome (DS) malformed girl aged 2 years, suffering with Acute Lymphoblastic Leukemia (ALL) as well as in her healthy parents. The malformed leukemic girl has about 90 percent of the analysed metaphases with the modal number 47 XX + 21, but in 15 percent of the same metaphases one notices t (9;22)(q34;q11) coexisting with trisomy 21. The mother has an inconsistent chromosomal change and the father is cytogenetically normal. The proband child's fingerprints distribution is partly similar to the mother's, but while the diseased girl has a simian line (SL) in her left hand, the healthy Father has a F1 transition form of palmar flexion creases in the left hand too. We have analysed two coexistent types of chromosomal aberrations in some metaphases of the proband girl who combines only some dermatoglyphic characteristics which are similar to each of the parents. Although the molecular basis is not known but partly in restructuring and/or repositioning of the genes in coexistent chromosomal changes we have suggested a possible way of expressing predispositional potential in leukemogenesis in which the chromosomes 21 and the genes located in them are implied.
对一名患有急性淋巴细胞白血病（ALL）的2岁唐氏综合征（DS）畸形女孩及其健康父母进行了细胞遗传学和皮纹学研究。这名畸形白血病女孩约90%的分析中期细胞具有核型47 XX + 21，但在相同中期细胞的15%中，可观察到t（9；22）（q34；q11）与21三体共存。母亲有不一致的染色体变化，父亲细胞遗传学正常。先证者孩子的指纹分布部分与母亲相似，但患病女孩左手有一条猿线（SL），健康的父亲左手也有F1型掌屈褶纹过渡形式。我们分析了先证者女孩部分中期细胞中两种共存的染色体畸变类型，她仅结合了一些与父母各自相似的皮纹特征。虽然分子基础尚不清楚，但在共存染色体变化中基因的部分重组和/或重新定位方面，我们提出了白血病发生中表达易感性潜能的一种可能方式，其中涉及21号染色体及其上的基因。
