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病例报告：一名患有20q13.2-q13.32父系缺失且生长发育迟缓的患者经生长激素治疗后病情改善。

Case Report: A Paternal 20q13.2-q13.32 Deletion Patient With Growth Retardation Improved by Growth Hormone.

作者信息

Liu Yu, Yang Ying, Chu Liming, Ren Shuai, Li Ying, Gao Aimin, Wen Jing, Deng Wanling, Lu Yan, Kong Lingyin, Liang Bo, Shao Xiaoshan

机构信息

Department of Pediatric Endocrinology, Genetics and Metabolism, Guiyang Maternal and Child Health Care Hospital, Guiyang Children's Hospital, Guiyang, China.

Basecare Medical Device Co., Ltd., Suzhou, China.

出版信息

Front Genet. 2022 Mar 24;13:859185. doi: 10.3389/fgene.2022.859185. eCollection 2022.

DOI:10.3389/fgene.2022.859185
PMID:35401665
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8987769/
Abstract

Interstitial chromosome 20q deletions, containing imprinted locus, are rarely reported in the past. Hereby, we presented a Chinese boy with a novel 4.36 Mb deletion at paternal 20q13.2-13.32, showing feeding difficulty, malnutrition, short stature, lower limb asymmetry, sightly abnormal facial appearance and mild intellectual abnormality. With 3 years' growth hormone treatment, his height was increased from 90 to 113.5 cm. This report is the first time to describe the outcome of clinical treatment on a patient with this rare chromosomal 20 long arm interstitial deletion, containing locus, which may facilitate the diagnosis and treatment of this type of patient in the future.

摘要

过去很少报道含有印记基因座的间质性20号染色体缺失。在此，我们报告了一名中国男孩，其父亲的20q13.2 - 13.32区域存在一个新的4.36 Mb缺失，表现为喂养困难、营养不良、身材矮小、下肢不对称、面部外观轻度异常和轻度智力异常。经过3年的生长激素治疗，他的身高从90厘米增加到了113.5厘米。本报告首次描述了对这种罕见的含有印记基因座的20号染色体长臂间质性缺失患者的临床治疗结果，这可能有助于未来此类患者的诊断和治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d2f/8987769/0fb3f009f95f/fgene-13-859185-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d2f/8987769/9fdf9c4536cb/fgene-13-859185-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d2f/8987769/bbbd4b3cf8bf/fgene-13-859185-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d2f/8987769/0fb3f009f95f/fgene-13-859185-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d2f/8987769/9fdf9c4536cb/fgene-13-859185-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d2f/8987769/bbbd4b3cf8bf/fgene-13-859185-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d2f/8987769/0fb3f009f95f/fgene-13-859185-g003.jpg

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