Clinical Diagnosis by Next-Generation Sequencing for a Patient with Syndromic Disorders of Sex Devel

• 作 者: YanlingDong;YutingYi;YanzhouWang;HuameiHu;HuaHu;RongZhang;XinYi;HongYao;
• 机 构: Department of Prenatal Diagnosis Center,the Affiliated Southwest Hospital,Third Military Medical Uni
• 出 处: 2014中国医师协会妇产科医师大会
• 发表日期: 2014年期

　　Objective: Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal,gonadal,and phenotypic sex.Most genes related to sex development are not only expressed in the developing gonad,but also in other organs.Defects in these genes,therefore,lead to syndromic DSDs.Here we report a female with primary amenorrhea and ear anomalies.Neither parent had any clinical features of this disease.This research is to determine the genetic cause of the patient.