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羊水细胞染色体核型与产后淋巴细胞培养结果不一致。

Discordance between karyotype from amniotic fluid and postnatal lymphocyte cultures.

作者信息

Bizzoco Domenico, Gabrielli Ivan, Tamburrino Caterina, Carpineto Lorena Sonia, Mesoraca Alvaro

机构信息

Artemisia Medical Center, Roma.

出版信息

J Prenat Med. 2012 Apr;6(2):34-5.

PMID:22905310
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3421951/
Abstract

Discordance between karyotype seen from amniocentesis and from neonatal blood is a very unusual condition with different possible causes.We present a case of discordance between prenatal cytogenetic diagnosis from amniotic fluid and post-natal cytogenetic diagnosis from lymphocyte cultures.

摘要

羊水穿刺所测核型与新生儿血液所测核型不一致是一种非常罕见的情况，可能有多种原因。我们报告一例羊水产前细胞遗传学诊断与淋巴细胞培养产后细胞遗传学诊断不一致的病例。

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本文引用的文献

1
Mosaic deletion-duplication syndrome of chromosome 3: prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy.3 号染色体镶嵌缺失-重复综合征：应用培养和未培养羊水细胞进行产前分子细胞遗传学诊断及其与胎儿-胎盘差异的关系。
Taiwan J Obstet Gynecol. 2011 Dec;50(4):485-91. doi: 10.1016/j.tjog.2011.10.015.
2
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.基于微阵列的比较基因组杂交技术可检测出传统细胞遗传学未发现的染色体嵌合体。
Am J Med Genet A. 2007 Aug 1;143A(15):1679-86. doi: 10.1002/ajmg.a.31740.
3
Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.一名患有4号染色体短臂嵌合重复的健康女性的生殖史。
Prenat Diagn. 2005 Apr;25(4):283-5. doi: 10.1002/pd.1095.
4
Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy.产前细胞遗传学诊断与妊娠结局之间的不一致性。
Prenat Diagn. 1984 Jan-Feb;4(1):51-9. doi: 10.1002/pd.1970040108.
5
An unusual mosaic karyotype detected through prenatal diagnosis with duplication of 1q and 19p and associated teratoma development.
Teratology. 1992 Oct;46(4):399-404. doi: 10.1002/tera.1420460410.