Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review.

ABSTRACT:

Background

The terminal 10q26 deletion syndrome is a clinically heterogeneous disorder without identified genotype-phenotype correlations. We reported a case of congenital asymmetric crying facies (ACF) syndrome with 10q26.12qter deletion and discussed their genotype-phenotype correlations and the potentially contributing genes involving the etiology of ACF.

Methods and results

We reported a case of neonatal 10q26.12qter deletion and summarized the genotype-phenotype correlations and contributing genes of 10q26.12qter deletion from DECIPHER database and published studies. Meanwhile, we analyzed the potential pathogenic genes contributing to 10q26 deletion syndrome. The female preterm infant harboring 10q26.12qter deletion showed symptoms of abnormal craniofacial appearance w

SUBMITTER: Li Q 

PROVIDER: S-EPMC8278754 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature