Yamamoto Y, Endo Y, Kuroki Y
J Med Genet. 1979 Oct;16(5):395-9. doi: 10.1136/jmg.16.5.395.
A case of partial trisomy 17 with partial monosomy X resulting from a maternal X-autosomal translocation t(X;17)(q13;q21) is presented. Three previously reported cases are reviewed and the phenotypic features of trisomy 17 are discussed.
本文报告一例因母亲发生X-常染色体易位t(X;17)(q13;q21)导致的17号染色体部分三体并X染色体部分单体的病例。回顾了之前报道的3例病例,并讨论了17号染色体三体的表型特征。