Genetic Analysis of a Case of Sotos Syndrome with Suspected Germinal Mosaicism in Mother.

Abstract excerpt

This study is to identify the pathogenic mutation of a child with Sots syndrome and provide prenatal diagnosis for his pregnant mother. Chromosome microarray technology was used to detect whether there were minor deletions/duplication in patients' chromosomes. The gene mutation of patients was screened by next-generation sequencing technology, and it was verified by Sanger sequencing. Prenatal diagnosis of the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Histone-Lysine N-Methyltransferase