Pan Yu-Qing, Fu Jian-Hua
Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China.
Front Pediatr. 2021 Feb 25;9:603666. doi: 10.3389/fped.2021.603666. eCollection 2021.
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.
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。