Xp11.22 microduplication related mental retardation: A family report and review of the literature
10.3760/cma.j.cn121361-2020011-00030
- VernacularTitle:Xp11.22微重复致智力障碍一家系报道并文献复习
- Author:
Jun LIU
1
;
Fang LIU
;
Baoquan JIAO
Author Information
1. 解放军联勤保障部队第九八○医院神经内科，石家庄 050082
- From:
Clinical Medicine of China
2020;36(6):557-560
- CountryChina
- Language:Chinese
-
Abstract:
Objective:Xp11.22 microduplication syndrome is a very rare disease.In July 2017, 2 male patients with Xp11.22 microduplication syndrome of the same family were admitted to the 980th Hospital of the PLA Joint Service Support Force.Diagnosis process: the medical exons of the proband and his parents were sequenced by high-throughput sequencing technology, and the gene sequences were compared and analyzed.Genomic copy number variation of proband, his uncle and his mother were analyzed by chromosome microarray.Medical exon sequencing did not find gene mutations that were highly correlated with the clinical phenotype of the proband.The results of chromosome microarray analysis showed that the proband had a 629 kb fragment duplication in the chrXp11.22 region, and the gene locus was Xp11.22 (53, 188, 779-53, 817, 598), which contained HSD17B10, HUWE1, SMC1A, KDM5C and IQSEC2 important OMIM genes, associated with Xp11.22 microduplication syndrome, it was a pathogenic copy number change.The same 612Kb fragment duplication in the chrXp11.22 region, locus Xp11.22 (53, 188, 779-53, 800, 670) was found in his uncle.And the same 803Kb fragment duplication in the chrXp11.22 region, locus (53, 188, 779-53, 991, 495) was found in his mother.In the families with unknown intelligence, especially male patients, it is necessary to detect the whole genome copy number of the patients to be alert to Xp11.22 microrepeat syndrome.
