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我室于85年9月在羊水细胞培养产前诊断时,发现一例46,XX,t(7;16)(q22;q22)相互易位携带着者,从而发现了一个家系,经查阅文献,国内外资料均未报导[1——2]。 现将病例摘要报告如下: 李××,编号85061,农民,第三孩系一痴男孩,发育比同龄儿小近一半,4岁死亡,死前仍说话不清,死亡原因不明。此次孕22周,要求产前检查。羊水细胞培养,其核型为46,XX,t(7;16)(7 ptef→7q22::16q22→16qter;16pter→16q22::7q22→7qter)见照片。系第7号和16号染色体相
My room in September 1985 in amniotic fluid cell culture prenatal diagnosis, found a case of 46, XX, t (7; 16) (q22; q22) mutual translocation carrying the person, which discovered a family, after reviewing the literature, Domestic and foreign information are not reported [1-2]. The summary of the case report is as follows: Li × ×, No. 85061, peasant, third child a crazy boy, developed nearly half the age of children, died at the age of 4, remained silent before death, the cause of death is unknown. The pregnant 22 weeks, requiring prenatal care. Amniotic fluid cell culture, the karyotype of 46, XX, t (7; 16) (7 ptef → 7q22 :: 16q22 → 16qter; 16pter → 16q22 :: 7q22 → 7qter) See photo. Department of chromosome 7 and 16 chromosomes