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[遗传性缺陷产前细胞遗传学诊断中的问题、方法及初步结果]

[Problems, methodology and 1st results in the prenatal cytogenic diagnosis of genetic defects].

作者信息

Weise W

出版信息

Zentralbl Gynakol. 1976;98(4):237-44.

PMID:134607
Abstract

24 patients were admitted for the prenatal diagnostics of genetic defects. In 20 patients a culture of amniotic fluid cells was necessary; Indicators for a culture of amniotic fluid cells were: state after the birth of a child with mongolism (12), D/G-translocation in the mother (1), familial burden of mongolism (2), sex determination for X-chromosomally inherited progressive muscular dystrophy and haemophilia (4), and the influence of exogenic noxae (1). For sex diagnostics only a smear preparation was obtained in one case. 3 women had an abortion before admission to the hospital and amniocentesis. No indication for cultivation of amniotic fluid cells exists in 4 cases. Therefore a culture of amniotic fluid cells was performed in 16 patients. In one patient the culture of amniotic fluid cells was unsuccessful. Problems and indications are considered in detail.

摘要

24例患者因产前诊断基因缺陷入院。其中20例患者需要进行羊水细胞培养;羊水细胞培养的指征包括:生育过患唐氏综合征患儿(12例)、母亲为D/G易位(1例)、唐氏综合征家族史(2例)、X染色体连锁的进行性肌营养不良和血友病的性别鉴定(4例)以及外源性有害物质的影响(1例)。仅1例患者为进行性别诊断而制作了涂片。3名女性在入院和羊膜穿刺术前已流产。4例患者不存在羊水细胞培养指征。因此,对16例患者进行了羊水细胞培养。1例患者羊水细胞培养未成功。详细讨论了相关问题和指征。

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