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一例猫叫综合征患儿的细胞遗传学研究,表明患儿系父母一方的配子染色体发生畸变所致。咨询祖父母表型正常,细胞遗传学检查父母的核型、表型均正常。患儿核型分析的结果一致表明染色体众数为46,B组中的一条5号染色体短臂缺失,在中——中期G带分裂相上确认的断裂点发生在5p13带上,因而缺失的部分是5p14→5pter,患儿核型为46,xy,del(5)(qter→p13:)复习文献就染色体的断裂点定位、表型的年龄效应与优生等问题进行分析讨论。另对患儿的猫叫啼哭声进行了磁带录音并用示波器制作出声波图,以兹与正常婴儿、猫之声波图对照。
A case of cat called syndrome in children with cytogenetic studies show that the children of the parents of the gamete chromosome aberrations caused. Consult the grandparent phenotype is normal, cytogenetics check the karyotype, phenotype are normal. The results of karyotyping in children consistently showed that the chromosome number was 46, a short arm of one of chromosome 5 in group B was missing, and the break point confirmed on the metaphase-mid G-phase cleavage phase occurred on 5p13 band, Part of the 5p14 → 5pter, children with karyotype 46, xy, del (5) (qter → p13 :) review the literature on chromosome location of the break point, the age effect of phenotype and eugenics and other issues were analyzed and discussed. In addition to the children’s cries and crying tape was recorded and made with an oscilloscope sonic diagram, with the normal infant, cat sound wave control.