Phelan J P, Upton R T, Summitt R L
Am J Obstet Gynecol. 1977 Nov 15;129(6):607-13. doi: 10.1016/0002-9378(77)90640-8.
Balanced translocations involving an X chromosome and an autosome have been infrequently reported. A patient with a balanced X-autosome translocation 46,X,rcp(X;4)(q26;q21) who exhibited early secondary amenorrhea and gonadal dysgenesis is described. In an effort to explain the varied phenotypic expressions encountered in female cases of balanced X-autosome translocations, evidence will be provided to suggest an extension of the minimal limits of the "critical region" in the long arm of the X chromosome from A-B, as described by Sarto and associates, to new minimal limits C-D.
涉及X染色体和常染色体的平衡易位鲜有报道。本文描述了一名患有平衡型X-常染色体易位46,X,rcp(X;4)(q26;q21)的患者，该患者表现为早期继发性闭经和性腺发育不全。为了解释平衡型X-常染色体易位女性病例中出现的各种表型表达，将提供证据表明，如Sarto及其同事所描述的，X染色体长臂上“关键区域”的最小界限从A-B扩展到新的最小界限C-D。
