Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.

ABSTRACT:

Background

Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China.

Methods

This is an observational study. Suspected patients were referred for further confirmation, clinical treatment, and genetic testing under voluntary condition. Demographic data and family history, data of clinical manifestations including facial dysmorphism and developmental delay of each patient were collected. Chromosomal analysis and NIPBL/SMC1A/SMC3 gene mutational analysis were carried out by PCR, reverse transcription PCR direct sequencing in the probands, and SNP array to detect the genome-wide copy number variations.

Results

Twenty CdLS ca

SUBMITTER: Hei M 

PROVIDER: S-EPMC5815176 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature