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Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

Authors :
Jianlong Zhuang
Na Zhang
Wanyu Fu
Jianfeng Yao
Yanqing Li
Shuhong Zeng
Yuanbai Wang
Yingjun Xie
Yuying Jiang
Source :
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-10 (2021)
Publication Year :
2021
Publisher :
BMC, 2021.

Abstract

Abstract Aims There is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to clarify the correlation between the genotype and the phenotype. Methods Two pedigrees with distal 4q duplication were enrolled in this study. Karyotype analysis and single-nucleotide polymorphism (SNP) array detection were performed for prenatal diagnosis. Fluorescence in situ hybridization analysis. (FISH) was conducted to verify the copy number variants. Results Two families with partial trisomy 4q were identified. The fetus in pedigree 1 exhibited multiple ultrasound anomalies including intrauterine growth restriction and an atrioventricular septal defect who had a duplication of 4q28.3-qter associate with 6p25.2-p25.3 deletion, which resulted from balanced translocation carried by his father t(4;6)(q28.3;p25.2). The fetus in pedigree 2 had a distal 4q28.3-qter duplication combined with monosomy of Xp21.3-p22.3, and the karyotype was described as 46,X,der(X)t(X;4)(p21.3;q28.3)mat, which originally inherited from the pregnant woman who exhibited a mild clinical phenotype limited to short stature. Conclusions In our study, we for the first time identified the partial trisomy 4q associate with 6p or Xp deletion. In addition, our finding further strengthens that mild clinical phenotype in 4q duplication case may be due to the spreading of X inactivation to the autosomal in derivation of chromosome X.

Details

Language :
English
ISSN :
17558166
Volume :
14
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Molecular Cytogenetics
Publication Type :
Academic Journal
Accession number :
edsdoj.fcdd2cc4f8624f8c985a2c243356cd69
Document Type :
article
Full Text :
https://doi.org/10.1186/s13039-021-00568-9