Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality

LU Bi-Yu; TAN Jian-Qiang; YUAN De-Jian; WANG Wen-Dan; WEI Xiao-Ni; YAN Ti-Zhen; CAI Ren

doi:10.7499/j.issn.1008-8830.2018.01.011

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Chinese Journal of Contemporary Pediatrics ›› 2018, Vol. 20 ›› Issue (1) : 52-55. DOI: 10.7499/j.issn.1008-8830.2018.01.011

CLINICAL RESEARCH

Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality

LU Bi-Yu, TAN Jian-Qiang, YUAN De-Jian, WANG Wen-Dan, WEI Xiao-Ni, YAN Ti-Zhen, CAI Ren

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Abstract

This study aimed to analyze the clinical phenotype of chromosome 9p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9p24.3-9p23 deletion and 9p23-9p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation.

Key words

Karyotype analysis / High-throughput sequencing / Chromosome 9 abnormality / Child

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LU Bi-Yu, TAN Jian-Qiang, YUAN De-Jian, WANG Wen-Dan, WEI Xiao-Ni, YAN Ti-Zhen, CAI Ren. Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality[J]. Chinese Journal of Contemporary Pediatrics. 2018, 20(1): 52-55 https://doi.org/10.7499/j.issn.1008-8830.2018.01.011

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