Song M, Li L
State Key Laboratory of Medical Genetics, Hunan Medical University, Changsha, P.R. China.
Clin Genet. 1996 Jun;49(6):316-7. doi: 10.1111/j.1399-0004.1996.tb03797.x.
Partial trisomy 6p with duplications ranging from 6p21 to 6p25 is emerging as an established syndrome. A case of duplication of segment p22-p25 of the short arm of chromosome 6 as the result of a maternal t (1;6)(q44;p22.2) translocation in a mentally retarded girl with congenital anomalies is reported here. The associated phenotypic anomalies are compared with other reported cases of duplication 6p involving adjacent regions.
6p部分三体伴6p21至6p25重复正逐渐成为一种公认的综合征。本文报道了一名患有先天性异常的智力发育迟缓女孩，因母亲发生t(1;6)(q44;p22.2)易位导致6号染色体短臂p22 - p25节段重复。将相关的表型异常与其他报道的涉及相邻区域的6p重复病例进行了比较。
