Phenotypic and genetic analysis of a child with partial trisomy 7q

To define the nature and origin of a chromosomal aberration in a child with unexplained growth and development retardation, and to analyze its genotype-phenotype correlation. A child who had presented at the Affiliated Children's Hospital of Zhengzhou University on July 9, 2019 was selected as...

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Published inZhonghua yi xue yi chuan xue za zhi Vol. 40; no. 5; p. 604
Main Authors Wang, Chaojie, Li, Dongxiao, Zhang, Yaodong, Kong, Jinghui, Li, Rui, Gao, Chao, Shang, Qing, Zhang, Huichun
Format Journal Article
LanguageChinese
Published China 10.05.2023
Subjects
Chromosome Banding
Female
Genotype
Humans
Karyotyping
Phenotype
Trisomy - genetics
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ISSN1003-9406
DOI10.3760/cma.j.cn511374-20220415-00252

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Summary:To define the nature and origin of a chromosomal aberration in a child with unexplained growth and development retardation, and to analyze its genotype-phenotype correlation. A child who had presented at the Affiliated Children's Hospital of Zhengzhou University on July 9, 2019 was selected as the study subject. Chromosomal karyotypes of the child and her parents were determined with routine G-banding analysis. Their genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array). Karyotyping analysis combined with SNP array suggested that the chromosomal karyotype of the child was 46,XX,dup(7)(q34q36.3), whilst no karyotypic abnormality was found in either of her parents. SNP array has identified a de novo 20.6 Mb duplication at 7q34q36.3 [arr[hg19] 7q34q36.3(138335828_158923941)×3] in the child. The partial trisomy 7q carried by the child was rated as a de novo pathogenic variant. SNP array can clarify the nature and origin of chromosomal aberrations. Analysis of the correlation between
ISSN:1003-9406
DOI:10.3760/cma.j.cn511374-20220415-00252