Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion syndrome, we collected the clinical features of the...

Full description

Bibliographic Details
Main Authors: Yiehen Tung, Haiying Lu, Wenxin Lin, Tingting Huang, Samuel Kim, Guo Hu, Gang Zhang, Guo Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Genetics
Subjects:
1q44 microdeletion syndrome
copy number variation
whole exon sequencing
seizure
developmental delay
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.648351/full

Similar Items

Similar Items