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本文报告一例新生的平衡的X;3易位的患者,对平衡的X;常染色体易位患者的表型和X失活类型的文献复习,表明X染色体失活的复杂性。病例报告:一位17岁的女孩,因原发性闭经和缺乏副性征而来就诊。体检证明,两
This article reports a sample of neonatal patients with a balanced X; 3 translocation that reviews the literature on the phenotypic and X-inactivation types of patients with balanced X; autosomal translocations and indicates the complexity of X-chromosome inactivation. Case Report: A 17-year-old girl attending for primary amenorrhea and absence of secondary sexual characteristics. Medical certificate, two