Publications by authors named "Cuiyun Qin"
[Genetic analysis of a child with Pitt-Hopkins syndrome due to a 18q21.2q21.32 deletion].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2022
Article Synopsis
- The study aimed to investigate the genetic causes of a child's global developmental and intellectual disabilities.
- Techniques used for analysis included chromosome karyotyping, CNV-seq, and high-resolution chromosome banding to identify genomic variants in the child and parents.
- Results showed a specific deletion on chromosome 18 linked to Pitt-Hopkins syndrome in the child, which was not present in the parents, highlighting the effectiveness of these genetic testing methods.
[Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
February 2014
Objective: To investigate the feature of phenylalanine hydroxylase (PAH) gene mutations and provide guidance for genetic and prenatal diagnosis of patients with phenylketonuria from Shaanxi.
Methods: For 55 patients whose blood Phe concentration was over 2.0 mg/dL, potential mutations in 13 exons and flanking sequences of the PAH gene were detected by PCR and DNA sequencing.