Jaffray J Y, Geneix A, Goumy P, Perissel B, Menut G, Malet P
Ann Genet. 1980;23(4):224-7.
Partial trisomy of chromosome 18 (pter leads to q122) due to a maternal t(9;18) is described. The proband's phenotype which includes many features of Edward's syndrome, is compared to other cases of partial trisomy 18 already reported.
本文描述了一例因母亲的t(9;18)染色体易位导致的18号染色体部分三体(从染色体短臂末端至q122)。先证者的表型包含许多爱德华综合征的特征,并与已报道的其他18号染色体部分三体病例进行了比较。