AI Article Synopsis
- - The study focused on analyzing the effects of deletions and duplications on chromosome 9p, especially regarding their impact on motor development in a young patient exhibiting developmental delays.
- - A 6-month-old female patient was diagnosed with abnormal chromosome 9 characteristics through karyotype analysis, revealing both a deletion (9p24.3-9p23) and a duplication (9p23-9p13.1).
- - Findings suggest that combining karyotype analysis with high-throughput sequencing can significantly enhance the diagnosis of genetic causes behind developmental delays and congenital issues in children.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7390313 | PMC |
| http://dx.doi.org/10.7499/j.issn.1008-8830.2018.01.011 | DOI Listing |
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