8p11.22-p21.2 染色体 12Mb 片段新缺失：一例报告。

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.

机构信息

Department of Paediatrics, University of Chinese Academy of Sciences-Shenzhen Hospital, Jinan University, Guangzhou, China.

Center for Medical Experiments, University of Chinese Academy of Sciences-Shenzhen Hospital, Shenzhen, China.

出版信息

BMC Med Genomics. 2022 Jun 6;15(1):126. doi: 10.1186/s12920-022-01274-0.

DOI:10.1186/s12920-022-01274-0

PMID:35668409

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9169259/

Abstract

BACKGROUND

The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.

CASE PRESENTATION

This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.00 MB deletion was detected in the 8p11.22-p21.2 region of chromosome 8. After sequencing, we found that 65 protein genes had been deleted, including FGFR1, which resulted in Kallmann syndrome. There was no deletion of the ANK1 gene associated with spherocytosis, consistent with the phenotype.

CONCLUSION

This patient is a new case of short arm deletion of chromosome 8, resulting in novel and previously unreported clinical features.

摘要

背景

8 号染色体短臂片段缺失是 Kallmann 综合征和球形红细胞增多症的罕见病因，这是由于 FGFR1 和 ANK1 基因缺失所致。

病例介绍

本病例研究描述了一名 4 个月大的婴儿，存在生长和精神运动发育迟缓、耳廓畸形、小头畸形、多趾畸形、心脏异常和喂养困难等症状。在 8 号染色体 8p11.22-p21.2 区域检测到约 12.00MB 的缺失。测序后，我们发现有 65 个蛋白基因缺失，包括导致 Kallmann 综合征的 FGFR1 基因。与球形红细胞增多症相关的 ANK1 基因没有缺失，与表型一致。