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病例报告：一名携带涉及10p13 - 15.3区域的12.48 Mb微缺失患者的临床描述。

Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13-15.3 Region.

作者信息

Pan Yu-Qing, Fu Jian-Hua

机构信息

Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.

出版信息

Front Pediatr. 2021 Feb 25;9:603666. doi: 10.3389/fped.2021.603666. eCollection 2021.

DOI:10.3389/fped.2021.603666
PMID:33732667
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7959834/
Abstract

Partial deletion of 10p chromosome is a rare chromosomal aberration. Submicroscopic deletion of 10p15.3 is mainly related to cognitive deficits, speech disorders, motor delay, and hypotonia with the deleted region ranging from 0.15 to 4 Mb. The clinical phenotype is mainly determined by the and genes. Here, we report a rare case of feeding difficulties, hypocalcemia, and psychomotor retardation. Our patient has a 12.48 Mb deletion in 10p15.3-10p13, which is the second case of large 10p deletion among reported cases thus far.

摘要

10号染色体短臂部分缺失是一种罕见的染色体畸变。10p15.3亚显微缺失主要与认知缺陷、言语障碍、运动发育迟缓及肌张力减退有关，缺失区域范围为0.15至4 Mb。临床表型主要由 和 基因决定。在此，我们报告一例罕见的喂养困难、低钙血症及精神运动发育迟缓病例。我们的患者在10p15.3 - 10p13区域有12.48 Mb的缺失，这是迄今为止报道病例中第二例10号染色体短臂大片段缺失的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cb0/7959834/5796dff038db/fped-09-603666-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cb0/7959834/28e51a5fe804/fped-09-603666-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cb0/7959834/35228f4e82e4/fped-09-603666-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cb0/7959834/5796dff038db/fped-09-603666-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cb0/7959834/28e51a5fe804/fped-09-603666-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cb0/7959834/35228f4e82e4/fped-09-603666-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cb0/7959834/5796dff038db/fped-09-603666-g0003.jpg

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