先天愚型为最常见的常染色体畸变,其中极大多数为标准型(47_(XY)~(XX)+21),易位型少见,约占10％。本室在咨询门诊发现一例父母正常的14/21易位型先天愚型儿及一个没有先天愚型的14/21携带者家系,现报告如下。例1 男,6岁,第一胎顺产,两岁才会走路,至今不会讲话,特别好动,随地大小便,流涎,不伸舌。眼距宽,鼻塌,双侧通贯掌,小指第二指节短,向挠侧弯,上腭高尖,表型为典型先天愚型。心肺听诊无异常,双侧睾丸已下降至阴囊。出生时母亲27岁,父28岁,母受孕时,父正患急性肝炎。患儿经外周血淋巴细胞培养核型为46,XY,-14,+t(14q;21q),其父母核型均正常。例2 女,23岁,农民。因第一胎分娩一多发畸形死胎而来求治。经染色体检查其核型 Down’s syndrome is the most common autosomal aberration, most of which are standard (47_ (XY) ~ (XX) +21), rare translocations, accounting for about 10%. This room in the consultation clinic found a normal parent 14/21 metformin and a child without Down’s family of 14/21 carriers, are as follows. Example 1 Male, 6 years old, the first child of the abortion, only two years old to walk, so far will not speak, very restless, anywhere urine, salivation, does not stretch the tongue. Eye wide, nasal collapse, both sides through the palm, the second finger of the little finger short, to the flexion side bend, the tip of the palate high, the phenotype is typical Down’s syndrome. Cardiopulmonary auscultation no abnormalities, bilateral testis has dropped to the scrotum. At birth, the mother is 27 years old and the father is 28 years old. The mother is suffering from acute hepatitis when the mother conceives. Children with peripheral blood lymphocytes cultured karyotype 46, XY, -14, + t (14q; 21q), the karyotype of their parents were normal. Example 2 Female, 23 years old, farmer. Because of the first child birth multiple malformations of stillbirth and seek treatment. Chromosome examination of its karyotype