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已有23例患Duchenne或Becker肌营养不良(DMD或BMD)妇女具X;常染色体易位,在X染色体上的断裂点是p21,因此,该病的病因是Xq21位点的基因突变。作者在为-31岁妇女作羊水常规产前诊断时,从羊水细胞核型46,X,t(X;4)(p21;q35),鉴定胎儿为一带易位的女胎。在作X染色体迟复制染色时,发现正常X染色体失活。因为该胎儿X染色体p21有断裂点,故该胎儿有增加DMD或BMD的危险。双亲自愿继续妊娠。至胎儿出生时,证实患儿染色体易位,并且血清肌酸激酶(ek)的水平明显地超过正常值,诊断为DMD。患儿三个月和
Altogether, 23 women with Duchenne or Becker muscular dystrophy (DMD or BMD) have X; autosomal translocations with a break point on the X chromosome of p21 and therefore the etiology of the disease is a mutation in the Xq21 locus. The authors identified a fetus as a translocation of a female fetus from amniotic fluid cell karyotype 46, X, t (X; 4) (p21; q35) when routine amniotic fluid prenatal diagnosis was performed for women aged -31 years. In late X chromosome replication staining, we found that the normal X chromosome inactivation. Because the fetus has a break point on the X chromosome p21, the fetus is at increased risk for DMD or BMD. Parents willing to continue pregnancy. At birth, chromosomal translocations were confirmed in children and levels of serum creatine kinase (ek) significantly exceeded normal and were diagnosed as DMD. Children with three months and