【摘要】 本文报告一例带有t(4;13)染色体易位的4q部分三体型男孩,主诉间歇性肢体痉挛,并有多指畸形,双耳低位及上腭高尖,经外周血淋巴细胞G显带染色体分析,核型为46,XY,-13,+der(13),t(4;13)(13pter→13q34∷4q25→4qter)。其母亲核型正常,父亲和伯父核型均为46,XY,t(1;4)(1pter→1q43∷4q25→4qter;4pter→4q25∷1q43→1qter),认为患儿的4q部分三体片段(4q25→4qter)得自父亲。更多还原

【Abstract】 In this paper a case of a 2 months male infant with partial trisomy 4q is reported. The conspicuous clinical symptoms are intermittent extremital spasm, low-site ears, polydactyly and high-arched palate. The cells of peripheral blood cultures show a chromosome complement of, 46, XY, - 13,+der(13),t(4;13) (13pter→13q34::4q25→4qter). His father and uncle are carriers of the balanced translocation between chromosome 1 and 4. Both karyotypes of theirs are 46, XY, t(1;4) (lpter→1q43::4q25→4qter; 4pter→4q25::1q43→1qter). It is supposed that the trisomic segment 4q25→4qter of the infant originated from his father.更多还原