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本文讨论9例46,XY 核型、女性表型弯肢综合征(CS),其中包括作者观察的1例。CS 患者可存在先天异质性,因此,大多数病例均有46,XY 核型及 X 线的变异。病例报告患者女婴,生后2天,第2胎,足月产。其母25岁(产_1孕_2),双亲无血缘关系,其姐6岁发育正常。家庭其他成员未见类似畸形。患儿母亲在妊娠期间,未服过任何避孕剂或其它药品。查体:重2.5Kg,身长41Cm。头围正常,睑裂为反蒙古种型斜面,宽而扁平的鼻
This article discusses 9 cases of 46, XY karyotype, female phenotypes of flexion syndrome (CS), including the authors observed in 1 case. CS patients may have congenital heterogeneity, therefore, most cases have 46, XY karyotype and X-ray variation. Case report Baby girl, 2 days after birth, the second child, full-term. The mother of 25 years old (_1 pregnant _2), no blood relationship between parents, their sister 6-year-old normal development. No other members of the family had similar deformities. Children with mothers during pregnancy, did not take any contraceptives or other drugs. Physical examination: weight 2.5Kg, length 41Cm. Head circumference normal, palpebral fissure anti-Mongoloid type bevel, wide and flat nose