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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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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在遗传咨询中终止妊娠很重要。羊膜腔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非常有价值。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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