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通过对患有闭经、自发流产、死胎、死产等患者外周血淋巴细胞染色体检查,发现 16 种新的罕见人类染色体异常核型,它们是46,XX,t(6;11)(q25;p15);46,XY,inv(3)(p25;q29);46,XY,t(7;18)(q10;p10);46,X,t(X;13)(q24;q14);46,XY,t(4;7)(q33; q22);46,XY, t(8;15)(q24; q15);46,XY, t(2;17)(q33; q25);46, XX, t(4;7)(q34;q11);46,XX,t(1;3)(p36;p23);46,XX,t(4;6)(q35;p11);46,X, inv(X)(q22; q28);46,XY, t(7;10)(q11; q26);46,XX,t(3;6)(p21;q23);46,XX,t(8;16)(p21;p13);46,XX,t(8;9)(q21;q34);46,XY,t(17;22)(q21;q11)。描述了患者的临床表现,并对生殖异常患者染色体畸变与其表型效应关系进行探讨。
Chromosome examination of peripheral blood lymphocytes in patients with amenorrhea, spontaneous abortion, stillbirth and stillbirth revealed 16 new rare human karyotypes, which were 46, XX, t (6; 11) (q25; p15 46, XY, inv (3) (p25; q29); 46, XY, t (7; 18) (q10; p10) 46, XY, t (2; 17) (q33; q25); 46, XX, 46, XX, t (4; 6) (q35; p11); 46, X, inv ( 46, XX, t (3; 6) (p21; q23); 46, XX, t (8; 16) (p21; p13); 46, XX, t (8; 9) (q21; q34); 46, XY, t (17; 22) (q21; q11). Described the clinical manifestations of patients, and reproductive abnormalities in patients with chromosomal aberrations and phenotypic effects were discussed.