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X染色体异常很常见,如果在胚胎时期未被淘汰,出生后可活至成年。现就我室所发现的几种X染色体异常病例,结合文献复习,讨论报告如下。一、病例例1 女,2岁。因不会说话,不能坐、站、走路,智力及生长发育均低于同龄儿而求诊。体查:身高72cm,重5.5kg,双肘外翻畸形,眼距宽,上腭不高尖,耳位稍低,右侧通贯掌,左侧桥贯掌,外生殖器如同龄幼儿,血检查染色体核型为47,XXX。例2 24岁,工人。因分娩一畸形胎儿求治。咨询中未见明显智力障碍,表型正常,月经按期,生殖器及第二性征均发育正常。核型47,XXX。
X chromosome abnormalities are common, if not eliminated in the embryonic period, after birth can live to adulthood. Now on my room found in several cases of X chromosome abnormalities, combined with the literature review, the discussion report is as follows. First, case 1 female, 2 years old. Because they can not speak, can not sit, stand, walk, intelligence and growth are lower than the same age children and seek medical advice. Physical examination: height 72cm, weight 5.5kg, double elbows valgus deformity, wide eyes, the palate is not high, the ear slightly lower, right through the palm, the left side of the bridge palm, genitalia, such as children of the same age, blood Check the karyotype for 47, XXX. Example 2 24 years old, worker. Due to a deformed fetus for treatment. Consultation no obvious mental retardation, normal phenotype, menstrual schedule, genital and secondary sexual characteristics are normal. Karyotype 47, XXX.