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正常的性别分化是一种自胚胎发育期至青春期发育成熟的序贯而连续的分化和发育过程。个体的染色体性别(遗传性别)在受精卵形成时就已确定,即46,XX为女性,46,XY为男性。并且由性染色体的差别决定了性腺的差别,即发育为卵巢及其附属器官着为女性,发育为睾丸及其附属器官者为男性。在染色体基因、性腺和其他一些因素的作用下,个体又向女性表现型或男性表现型性别(躯体性别和社会性别)发育。在胚胎发育的任何时期或任何步骤出现异常,均可引起性别分化异常或性发育疾病。本文对遗传咨询门诊中33例因不育、无精子症、原发闭经和外生殖器发育畸形等原因就诊的患者进行染色体检查及临床分析,探讨了性分化异常患者的遗传学基础。
Normal gender differentiation is a sequential and continuous process of differentiation and development that matures from embryonic development to adolescence. An individual’s chromosomal sex (genetic sex) has been established at fertilized egg formation, 46, XX for women, 46 for XY. And sex chromosome differences determine the difference between the gonads, that is, the development of ovarian and its appendices with the female, testes and their appendages are male. In the role of chromosomal genes, gonads, and other factors, individuals develop female phenotypes or male phenotypic sexes (body sex and gender). Abnormalities occur at any stage of the embryonic development or at any step, which can cause abnormalities in sexual differentiation or sexual development. In this study, 33 cases of genetic counseling clinic for infertility, azoospermia, primary amenorrhea and other causes of genital malformations in patients with chromosomal examination and clinical analysis to explore the genetic basis of abnormalities in patients with sexual differentiation.