An Interesting Prenatal Diagnosis: Double Aneuploidy

机译：有趣的产前诊断：双重非整倍性

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摘要

Double aneuploidy, the existence of two chromosomal abnormalities in the same individual, is a rare condition. Early diagnosis of this condition is important to offer termination of pregnancy in genetic counselling. Cytogenetic analysis with amniocentesis and ultrasound examination is valuable for diagnosis of double aneuploidy. In this report we present a case with the karyotype of 48XXY+21 diagnosed prenatally.

机译：双重非整倍性，在同一个体中存在两个染色体异常，是一种罕见的情况。这种情况的早期诊断对于遗传咨询中终止妊娠很重要。羊膜穿刺术和超声检查的细胞遗传学分析对双倍体非整倍性的诊断具有重要价值。在本报告中，我们介绍了一个在出生前被诊断为48XXY + 21核型的病例。

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期刊名称 Case Reports in Obstetrics and Gynecology
作者
Çetin Aydin; Serenat Eris; Yakup Yalcin; Halime Sen Selim;
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年(卷),期 2013(2013),-1
年度 2013
页码 790286
总页数 3
原文格式 PDF
正文语种
中图分类妇产科学;
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1. 荧光原位杂交检测7号染色体非整倍性与肌层浸润性膀胱癌的相关性 [J] . 刁夏尧, 黄成然, 黄丽芳, 癌症（英文版） . 2021,第005期
2. Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome [J] . Chih-Ping Chen, Hsiu-Ting Tsai, Schu-Rern Chern, Taiwanese journal of obstetrics and gynecology . 2021,第3期

机译：在妊娠期羊膜膜的47，XXY和Trisomy 7（48，XXY，+ 7）中的双环倍性的果皮主义产前诊断
3. An Interesting Prenatal Diagnosis: Double Aneuploidy [J] . ?etinAydin, SerenatEris, YakupYalcin, Case Reports in Obstetrics and Gynecology . 2013,第2期

机译：有趣的产前诊断：双重非整倍性
4. Double aneuploidy with Edwards-Klinefelter syndromes (48,XXY,+18) of maternal origin: Prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb [J] . ChenC.-P., ChernS.-R., ChenC.-Y., Taiwanese journal of obstetrics and gynecology . 2011,第4期

机译：患有母亲的爱德华兹-克莱因费尔特综合征（48，XXY，+ 18）的双倍体非整倍性：左腕关节发育不良和左手发育不全的胎儿的产前诊断和分子细胞遗传学特征
5. Prenatal Diagnosis of Aneuploidy Using Artificial Neural Networks in Relation to Health Economics [C] . A.C. Neocleous, C.K. Neocleous, N. Petkov Mediterranean Conference on Medical and Biological Engineering and Computin . 2016

机译：用人工神经网络与卫生经济学相关的非倍性产前诊断
6. Utilization of FISH technology in prenatal diagnosis to detect chromosomal aneuploidy. [D] . McCue, Erin Christine. 2000

机译：FISH技术在产前诊断中用于检测染色体非整倍性。
7. Downs/Turners mosaicism. Double aneuploidy as a rare cause of missed prenatal diagnosis of chromosomal abnormality. [O] . R MacFaul, T Turner, M K Mason 1981

机译：唐氏/特纳的镶嵌画。双倍体非整倍性是错过产前诊断染色体异常的罕见原因。
8. Double aneuploidy with Edwards–Klinefelter syndromes (48,XXY,+18) of maternal origin: Prenatal diagnosis and molecular cytogenetic characterization in a fetus with arthrogryposis of the left wrist and aplasia of the left thumb [O] . Chih-Ping Chen, Schu-Rern Chern, Chen-Yu Chen, 2011

机译：母体来源的Edwards-Klinefelter综合征（48，XXY，+ 18）的双重非整倍性：胎儿的产前诊断和分子细胞遗传学表征，左手腕关节挛缩和左拇指发育不全

An Interesting Prenatal Diagnosis: Double Aneuploidy

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