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[母亲为平衡型5p--; 18p+易位情况下猫叫综合征的产前诊断]

[Prenatal diagnosis of the cri-du-chat syndrome in the case of balanced 5p--; 18p+ translocation in the mother].

作者信息

Zolotukhina T V, Butomo I V, Rozovskiĭ I S, Grinberg K N

出版信息

Genetika. 1981;17(7):1304-8.

PMID:7196856
Abstract

The case studied is taken to emphasize the high risk of anomalous progeny being delivered from couples, who are the balanced translocation carriers. The "cri du chat" syndrome was diagnosed in a woman carrier of the balanced reciprocal translocation t(5, 18) (5p13; 18p11) during two successive pregnancies: the diagnosis was postnatal in the first pregnancy, and prenatal in the second. The prenatal diagnosis of the 5p--syndrome was made in amniotic fluid cell culture and verified in fetal skin culture obtained through fetal biopsy. A wider network of prenatal diagnosis services, primarily for couples carrying balanced chromosome rearrangements, could greatly contribute to the task of preventing severe hereditary diseases.

摘要

所研究的病例旨在强调平衡易位携带者夫妇生出异常后代的高风险。一名携带平衡相互易位t(5, 18) (5p13; 18p11)的女性携带者在连续两次怀孕中被诊断出患有“猫叫综合征”:第一次怀孕的诊断是产后诊断,第二次是产前诊断。5p-综合征的产前诊断是在羊水细胞培养中做出的,并通过胎儿活检获得的胎儿皮肤培养进行了验证。一个更广泛的产前诊断服务网络,主要针对携带平衡染色体重排的夫妇,可能会极大地有助于预防严重遗传性疾病的任务。

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