报告一例智力低下及头小等多发畸形的4岁女孩,经G、Q及C显带证实,外周血淋巴细胞核型为46,XX,t(12;16)(p12;q24),无嵌合现象,其父母的核型均正常。结合临床及病史分析,认为患儿的主要临床表现与该染色体易位有关。本例新生的染色体平衡易位可能来源于双亲之一配子发生过程中的突变或性腺内存在该易位的嵌合体。如属后一情况亦可能形成异常的、不平衡的配子。 Reported a case of mental retardation and small head and other multiple malformations of 4-year-old girl, confirmed by G, Q and C band, peripheral blood lymphocyte karyotype 46, XX, t (12; 16) Phenomenon, the karyotype of their parents are normal. Combined with clinical and medical history, that the main clinical manifestations in children with the chromosomal translocation. The newborn chromosomal equilibrium translocation in this case may originate from a mutation in the process of one of the parents or a chimera in which the translocation exists in the gonads. In the latter case, abnormal and unbalanced gametes may also form.