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对羊水细胞培养中确诊的真正的17号染色体镶嵌三体的进一步观察。

Further observations of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures.

作者信息

Djalali M, Barbi G, Mueller-Navia J, Schneider M, Tettenborn U, Trautmann U, Ulmer R, Wolf M, Vogel W

机构信息

Abteilung Medizinische Genetik, Universität, Ulm, Germany.

出版信息

Prenat Diagn. 1998 Nov;18(11):1191-4. doi: 10.1002/(sici)1097-0223(199811)18:11<1191::aid-pd417>3.0.co;2-x.

Abstract

Three new cases of true mosaic trisomy 17 (MT17) were diagnosed in amniotic fluid cells. Postnatal chromosome analysis from lymphocytes did not confirm the trisomic cell line, and follow-up studies showed normal psycho-motor development of the children, in one case up to the age of 4 1/2 years. We suggest that there are similarities between MT17 and MT20, in which the majority of pregnancies result in deliveries of healthy babies.

摘要

在羊水细胞中诊断出3例新的真正的17号染色体嵌合三体(MT17)病例。淋巴细胞的产后染色体分析未证实三体细胞系,后续研究表明这些儿童的精神运动发育正常,其中1例随访至4岁半。我们认为MT17和MT20之间存在相似之处,在MT20中,大多数妊娠都能分娩出健康的婴儿。

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