Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs.

ABSTRACT:

Background

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.

Methods

Radiographs of 374 deceased fetuses and infants, including terminations of pregnancies, stillbirths and neonatal deaths, were assessed. Copy number profiles of 265 patients were determined using single nucleotide polymorphism array.

Re

SUBMITTER: Schut PC 

PROVIDER: S-EPMC7689732 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature