论文部分内容阅读
患者,男性,3岁3个月,因发育迟缓就诊。系第2胎,足月顺产,孕期无异常情况。2岁会走,至今只会喊爸、妈。检查:身高70cm,体重7kg,头围45cm,两耳位偏低,耳廓外翻,双手通贯手,两侧睾丸位子腹沟。外周血培养,染色体核型为46,XY,dup(X)(q21;q22),其弟临床症状及核型均相同。母亲核型为46,XX,dup(X)(q21;q22),表型正常,高中毕业,无流产史。
Patients, men, 3 years old 3 months, due to stunting treatment. Department of the second child, term full-term pregnancy, no abnormalities during pregnancy. 2-year-old will go, so far will only call father, mother. Check: height 70cm, weight 7kg, head circumference 45cm, the two ear low, pinna valgus, hands pass hand, both sides of the testicle abdomen ditch. Peripheral blood culture, chromosomal karyotype 46, XY, dup (X) (q21; q22), his brother clinical symptoms and karyotype are the same. Mother karyotype 46, XX, dup (X) (q21; q22), normal phenotype, high school graduation, no history of abortion.