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First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population?
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-08-16 , DOI: 10.1002/pd.5812
Ilaria Fantasia 1 , Tamara Stampalija 1, 2 , Fabio Sirchia 3 , Irene Della Pietà 2 , Chiara Ottaviani Giammarco 2 , Francesca Guidolin 3 , Mariachiara Quadrifoglio 1 , Valentina Barresi 1 , Laura Travan 4 , Flavio Faletra 3
Affiliation  

To evaluate the association of first‐trimester absent nasal bone (NB) and genetic abnormalities at G‐banding karyotype and chromosomal microarray analysis (CMA) according to the nuchal translucency (NT) thickness.

中文翻译:

早孕期鼻骨缺失:它是低危人群中致病性 CNV 的预测因素吗?

根据颈部半透明层 (NT) 厚度评估妊娠早期鼻骨缺失 (NB) 与 G 显带核型和染色体微阵列分析 (CMA) 遗传异常之间的关联。
更新日期:2020-08-16
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