Analysis of clinical characteristics and molecular genetics in eighteen patients with 1q21.1 microdeletion syndrome
10.3760/cma.j.cn511374-20230311-00125
- VernacularTitle:1q21.1微缺失综合征18例患者的临床表型及分子遗传学分析
- Author:
Xiaojin LUO
1
;
Hongyan NIU
;
Fei ZHOU
;
Shuangwu LI
;
Zhenming LI
;
Yanyun GUO
Author Information
1. 深圳市龙岗区妇幼保健院（汕头大学医学院龙岗妇幼临床学院），深圳 518172
- Keywords:
Chromosome;
1q21.1 microdeletion;
Single nucleotide polymorphism array;
Copy number variation
- From:
Chinese Journal of Medical Genetics
2024;41(4):480-485
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics of 1q21.1 microdeletion by using single nucleotide polymorphism microarrays (SNP array).Methods:Eighteen cases of 1q21.1 microdeletion syndrome diagnosed at the Longgang District Maternal and Child Health Care Hospital of Shenzhen City from June 2017 to December 2022 were selected as the study subjects. Clinical data of the patients were collected. Results of chromosomal karyotyping and SNP assay were retrospectively analyzed.Results:Among the 18 cases with 1q21.1 microdeletions, 13 had a deletion between BP3 and BP4, 4 had a deletion between BP1/BP2 and BP4, whilst 1 had a proximal 1q21.1 deletion (between BP2 and BP3) involving the Thrombocytopenia-absent radius (TAR) region. The deletions had spanned from 360 kb to 3.9 Mb, which encompassed the GJA5, GJA8, CHD1L, RBM8AB and other morbid genes. In three families, the proband child has inherited the same 1q21.1 microdeletion from their parents, whose clinical phenotype was normal or slightly abnormal. The clinical phenotypes of 1q21.1 microdeletion had included cognitive or behavioral deficits in 9 cases (9/18, 50.0%), growth retardation in 8 cases (8/18, 44.4%), craniofacial deformities in 7 cases (7/18, 38.8%), cardiovascular malformations in 5 cases (5/18, 27.8%), and microcephaly in 3 cases (3/18, 16.7%). Conclusion:1q21.1 microdeletion syndrome has incomplete penetrance and varied expression such as intellectual impairment, growth and development delay, and microcephaly, with a wide range of non-specific phenotypes.
