论文部分内容阅读
人类染色体臂间倒位在各条染色体中均可发生,且可遗传数代。作者在遗传咨询中发现1个3代1号染色体臂间倒位家系,现报告如下: 患者,女,3岁,第1胎,正常分娩,出生体重3000g,3岁仍不会说话,不能站立、走路。体检:身高93cm,体重13kg,面部表型正常。左手四、五指并指,五指仅有一个横褶纹,右手通贯掌。两下肢肌肉萎缩,双足内翻。患儿父母非近亲结婚,且智力、表型正常。出生时母27岁、父28岁,母亲无流产史,但孕早期
Human chromosome inversion between arms can occur in each chromosome, and can be inherited for generations. The author found in the genetic counseling a 3 generation on the 1st chromosome arm in the inverted family, are reported as follows: patients, female, 3 years old, first child, normal delivery, birth weight 3000g, 3 years old still can not speak, can not stand ,walk. Physical examination: height 93cm, weight 13kg, normal facial phenotype. Left four fingers, five fingers and fingers, fingers only one horizontal folds, right hand through the palm. Two lower extremity muscle atrophy, bipedal varus. Parents of children with non-relatives married, and intelligence, phenotype normal. 27-year-old mother, 28-year-old mother, no history of abortion, but early pregnancy