Clinical and Genetic Analysis of 4 Cases of 1q21.1 Distal Microdeletion/Microduplication Syndrome Complicated with Congenital Heart Disease
HE Jing
WANG Jing
LIN Peng-wu
JIA Chun-yang
ZHU Shao-hua
HAO Sheng-ju
FENG Xuan
Abstract：Objective:To analyze the clinical and genetic characteristics of 1q21.1 distal microdeletion/microduplication syndrome combined with congenital heart disease(CHD)using chromosome copy number variation sequencing(CNV-seq).Methods:Retrospective analysis was conducted on the four pediatric patients diagnosed with 1 q21.1 microdeletion/microduplication syndrome and CHD using CNV-seq at Gansu Provincial Maternity and Child Care Hospital.Results:The chromosomal CNV overlap region of 4 cases was identified as chr1:g.1465200000-147840000,the heart-related genes included CAJ5,CAJ8,PPKAB2,CHD1L,BCL9,etc.One child with microduplication displayed various concurrent anomalies including micromandible malformations,retrolingual fall,maxillary clefts as well as aberrant urinary system development.In three children with microdeletion,two out of three experienced significant growth retardation(one presenting severe intellectual impairment along with hypotonia and micropenis while another exhibited distinctive facial features),and one child underwent surgery for CHD during follow-up with a favorable prognosis.Conclusions:CHD in combination with developmental delay and/or distinctive facial features,represents a significant phenotype in young children affected by 1q21.1 microdeletion/duplication syndrome.It is imperative to identify chromosomal CNV in these individuals to provide theoretical basis for subsequent clinical diagnosis and treatment.
Keywords：DNA copy number variationsWhole genome sequencingChromosome deletionChromosome duplicationHeart defectscongenital
Publication Date：2024-11-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 462-466 )