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Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs.
Birth Defects Research ( IF 1.6 ) Pub Date : 2020-08-04 , DOI: 10.1002/bdr2.1786
Pauline C Schut 1 , Erwin Brosens 2 , Tom J M Van Dooren 3, 4 , Frietson Galis 3 , Clara M A Ten Broek 3 , Inge M M Baijens 1 , Marjolein H G Dremmen 5 , Dick Tibboel 6 , Martin P Schol 2 , Annelies de Klein 2 , Alex J Eggink 1 , Titia E Cohen-Overbeek 1
Affiliation  

Cervical patterning abnormalities are rare in the general population, but one variant, cervical ribs, is particularly common in deceased fetuses and neonates. The discrepancy between the incidence in the general population and early mortality is likely due to indirect selection against cervical ribs. The cause for the co‐occurrence of cervical ribs and adverse outcome remains unidentified. Copy number variations resulting in gain or loss of specific genes involved in development and patterning could play a causative role.

中文翻译:

探索具有异常脊椎图案和颈肋的死胎和新生儿的拷贝数变异。

宫颈图案异常在一般人群中很少见,但一种变异,即颈肋,在死胎和新生儿中尤为常见。一般人群的发病率与早期死亡率之间的差异可能是由于对颈肋的间接选择所致。颈肋同时发生和不良结果的原因尚不清楚。导致参与发育和模式化的特定基因的获得或损失的拷贝数变异可能起致病作用。
更新日期:2020-08-04
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