Fujimoto A, Lin M S, Korula S R, Wilson M G
Am J Med Genet. 1985 Oct;22(2):333-42. doi: 10.1002/ajmg.1320220217.
A 2-year-old girl with growth and developmental retardation, minor facial anomalies, asymmetry of face and body, tetralogy of Fallot, and reticular hyperpigmentation of the skin was found to have mosaic trisomy 14 involving a t(14;15)(q11;p11). The patient showed mosaicism for 46,XX cell line, apparently resulting from a break of the translocation chromosome and a subsequent loss of 14q. The mother has a balanced translocation t(14;15)(q11;p11). Inherited trisomy 14 has not been reported previously.
一名2岁女童，有生长发育迟缓、轻微面部异常、面部和身体不对称、法洛四联症以及皮肤网状色素沉着，被发现存在涉及t(14;15)(q11;p11)的14号染色体三体嵌合体。该患者显示46,XX细胞系的嵌合现象，显然是由于易位染色体断裂以及随后14q的丢失所致。母亲有平衡易位t(14;15)(q11;p11)。此前尚未报道过遗传性14号染色体三体。
