Ying Pang, Lan Zeng, Hua Liang, Chunlan Cheng, Lihui Shan, Jin Wang, Nanjing Jiang, Guanghuan Pi, Li Yang, Ai Chen, Fu Xiong, Shuyao Zhu
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引用次数: 0
摘要
背景：4号染色体短臂上的连续基因缺失与多种神经发育障碍有关：4号染色体短臂上的连续基因缺失与多种神经发育障碍有关：在本研究中，我们对一名患有肛门闭锁、全面发育迟缓、淋巴细胞增多症和其他多系统异常的疑似患者进行了外周血染色体 G 带核型分析和全外显子组测序（WES）。此外，还对该患者的父母和兄弟进行了染色体 G 带核型分析：结果：通过染色体 G 带核型分析和 WES，发现这名 7 个月大的疑似患者存在 26.738 Mb 的 4p15.33-p14 缺失：我们通过核型和 WES 分析发现了一名近端 4p 缺失综合征患者，这可能解释了他的一些表型。我们的研究增进了临床医生对这种罕见疾病的了解，并为患者家庭提供了宝贵的遗传咨询。要确定与近端 4p 缺失综合征相关的致病基因或关键区域，还需要进一步的研究。
Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies.
Background: Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders.
Methods: In this study, we conducted peripheral blood chromosome G-banding karyotyping and whole-exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G-banding karyotyping was also carried out on the proband's parents and brother.
Results: The 7-month-old proband was found to have a 26.738 Mb 4p15.33-p14 deletion as identified by chromosome G-banding karyotyping and WES.
Conclusion: We identified a patient with proximal 4p deletion syndrome by karyotype and WES analysis, which might explain some of his phenotypes. Our research enhances clinicians' knowledge of this rare condition, and offers valuable genetic counseling to the affected family. Further research is necessary to identify the causative gene or critical region associated with proximal 4p deletion syndrome.
期刊介绍：
Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care.
Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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