3号染色体长臂(3q)部分三体综合征的研究(附3例报告)

AN INVESTIGATION ON PARTIAL TRISOMY 3q SYNDROME IN 3 CASES

作者通过细胞遗传学研究,证实来自三个家系的3例3q 部分三体综合征。3例3q 片段重复长短不一,分别来自新生畸变,父源染色体平衡易位和母源染色体臂间倒位。此重复还分别由于 X 与3号染色体易位,3号与14号染色体易位和3号染色体臂间倒位所产生。

Three cases of partial trisomy 3q syndrome with genetic and chromosomal studies arereported.The karyotypes of the 3 cases were 46,XX,der(X),t(X;3)(q28;q13);46,XX,der(14),t(3;14)(q25;p11)and 46,XX,Rec(3)dup,inv(3)(p25q25).Partial trisomy 3qwas resulted from a de novo translocation,a paternal translocation and a maternal inversionrespectively.The size of the trisomic segment varied according to the breakpoint on 3q.The pathogenesis,clinical phenotypes and cytogenetics are discussed.